{"Name":"Crandall syndrome","DiseaseID__c":"GARD:0001561","id":1561,"encodedName":"crandall-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Crandall syndrome","Xref_IDs__c":"278098005; C0432348; MEDGEN:96597; MONDO:0016067","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:0016067","Disease_Description__c":"This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.","GARD_Name__c":"Crandall syndrome","GARD_Synonym__c":"alopecia-deafness-hypogonadism syndrome; alopecia-sensorineural deafness-hypogonadism syndrome","Curated_Disease_Description_Source__c":"MONDO:0016067","Curated_Disease_Description__c":"This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:202","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016067","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":"This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.","Curated_Disease_Description_Source__c":"MONDO:0016067","GARD_Synonym__c":"alopecia-deafness-hypogonadism syndrome; alopecia-sensorineural deafness-hypogonadism syndrome","Name":"Crandall syndrome","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=96597","Source__c":"C0432348","Xref__c":"MEDGEN:96597"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432348","Source__c":"C0432348","Xref__c":"C0432348"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=278098005","Source__c":"MONDO:0016067","Xref__c":"278098005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016067","Source__c":"GARD:0001561","Xref__c":"MONDO:0016067"}],"tags":{},"synonyms":["alopecia-deafness-hypogonadism syndrome"," alopecia-sensorineural deafness-hypogonadism syndrome"]}