{"Name":"Gonadal dysgenesis","DiseaseID__c":"GARD:0002538","id":2538,"encodedName":"gonadal-dysgenesis","IsDeleted":false,"Disease_Name_Full__c":"Gonadal dysgenesis","Xref_IDs__c":"205681004; C0018051; C61420; D006059; DOID:14447; HP:0000133; MEDGEN:9075; MONDO:0001967","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0001967","Disease_Description__c":"A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.","GARD_Name__c":"Gonadal dysgenesis","GARD_Synonym__c":"gonadal dysgenesis syndrome; pure gonadal dysgenesis","Curated_Disease_Description_Source__c":"MONDO:0001967","Curated_Disease_Description__c":"A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0001967","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.","Curated_Disease_Description_Source__c":"MONDO:0001967","GARD_Synonym__c":"gonadal dysgenesis syndrome; pure gonadal dysgenesis","Name":"Gonadal dysgenesis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Accord Alliance","Website__c":"http://www.accordalliance.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=205681004","Source__c":"C0018051; MONDO:0001967","Xref__c":"205681004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=9075","Source__c":"C0018051","Xref__c":"MEDGEN:9075"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0018051","Source__c":"C0018051","Xref__c":"C0018051"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C61420","Source__c":"C0018051; MONDO:0001967","Xref__c":"C61420"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14447","Source__c":"MONDO:0001967","Xref__c":"DOID:14447"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C006059","Source__c":"C0018051; MONDO:0001967","Xref__c":"D006059"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000133","Source__c":"C0018051","Xref__c":"HP:0000133"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0001967","Source__c":"GARD:0002538","Xref__c":"MONDO:0001967"}],"tags":{},"synonyms":["gonadal dysgenesis syndrome"," pure gonadal dysgenesis"]}