{"Name":"Hirsutism-skeletal dysplasia-intellectual disability syndrome","DiseaseID__c":"GARD:0005566","id":5566,"encodedName":"hirsutism-skeletal-dysplasia-intellectual-disability-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hirsutism-skeletal dysplasia-intellectual disability syndrome","Xref_IDs__c":"C0795976; C536705; MEDGEN:163202; MONDO:0007724; OMIM:142625","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":1,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MEDGEN:C0795976","Disease_Description__c":"A combination of congenital anomalies consisting of hirsutism, brachycephaly, abnormal position of thumbs, pedes excavatio with claw-toes, facial abnormalities, and mental deficiency.","GARD_Name__c":"Hirsutism-skeletal dysplasia-intellectual disability syndrome","GARD_Synonym__c":"hirsutism, skeletal dysplasia, and impaired intellectual development; wiedemann-oldigs-oppermann syndrome","Curated_Disease_Description_Source__c":"MEDGEN:C0795976","Curated_Disease_Description__c":"A combination of congenital anomalies consisting of hirsutism, brachycephaly, abnormal position of thumbs, pedes excavatio with claw-toes, facial abnormalities, and mental deficiency.","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 Entity","MONDO_ID__c":"MONDO:0007724","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 combination of congenital anomalies consisting of hirsutism, brachycephaly, abnormal position of thumbs, pedes excavatio with claw-toes, facial abnormalities, and mental deficiency.","Curated_Disease_Description_Source__c":"MEDGEN:C0795976","GARD_Synonym__c":"hirsutism, skeletal dysplasia, and impaired intellectual development; wiedemann-oldigs-oppermann syndrome","Name":"Hirsutism-skeletal dysplasia-intellectual disability syndrome","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536705","Source__c":"MONDO:0007724","Xref__c":"C536705"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=163202","Source__c":"C0795976","Xref__c":"MEDGEN:163202"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0795976","Source__c":"C0795976","Xref__c":"C0795976"},{"URL__c":"https://www.omim.org/entry/142625","Source__c":"C0795976; MONDO:0007724","Xref__c":"OMIM:142625"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007724","Source__c":"GARD:0005566","Xref__c":"MONDO:0007724"}],"tags":{},"synonyms":["hirsutism, skeletal dysplasia, and impaired intellectual development"," wiedemann-oldigs-oppermann syndrome"]}