{"Name":"Autosomal dominant nonsyndromic hearing loss 24","DiseaseID__c":"GARD:0009166","id":9166,"encodedName":"autosomal-dominant-nonsyndromic-hearing-loss-24","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant nonsyndromic hearing loss 24","Xref_IDs__c":"C1853451; C565239; DOID:0110554; MEDGEN:377905; MONDO:0011657; OMIM:606282","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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011657","Disease_Description__c":"An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter.","GARD_Name__c":"Autosomal dominant nonsyndromic hearing loss 24","GARD_Synonym__c":"deafness, autosomal dominant 24","Curated_Disease_Description_Source__c":"MONDO:0011657","Curated_Disease_Description__c":"An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:606282","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011657","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":"An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter.","Curated_Disease_Description_Source__c":"MONDO:0011657","GARD_Synonym__c":"deafness, autosomal dominant 24","Name":"Autosomal dominant nonsyndromic hearing loss 24","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009166","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565239","Source__c":"MONDO:0011657","Xref__c":"C565239"},{"URL__c":"https://www.omim.org/entry/606282","Source__c":"C1853451; MONDO:0011657","Xref__c":"OMIM:606282"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1853451","Source__c":"C1853451","Xref__c":"C1853451"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110554","Source__c":"MONDO:0011657","Xref__c":"DOID:0110554"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=377905","Source__c":"C1853451","Xref__c":"MEDGEN:377905"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011657","Source__c":"GARD:0009166","Xref__c":"MONDO:0011657"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:606282","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["deafness, autosomal dominant 24"]}