{"Name":"Autosomal dominant nonsyndromic hearing loss 3A","DiseaseID__c":"GARD:0009933","id":9933,"encodedName":"autosomal-dominant-nonsyndromic-hearing-loss-3a","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant nonsyndromic hearing loss 3A","Xref_IDs__c":"C2675750; C567277; DOID:0110564; MEDGEN:436512; MONDO:0011103; OMIM:601544","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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011103","Disease_Description__c":"Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene.","GARD_Name__c":"Autosomal dominant nonsyndromic hearing loss 3A","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MEDGEN:C2675750","Curated_Disease_Description__c":"Nonsyndromic hearing loss and deafness, DFNA3 is characterized by pre- or postlingual, mild-to-profound progressive high-frequency sensorineural hearing impairment. Affected individuals have no other associated medical findings.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:601544","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011103","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":"Nonsyndromic hearing loss and deafness, DFNA3 is characterized by pre- or postlingual, mild-to-profound progressive high-frequency sensorineural hearing impairment. Affected individuals have no other associated medical findings.","Curated_Disease_Description_Source__c":"MEDGEN:C2675750","Name":"Autosomal dominant nonsyndromic hearing loss 3A","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Hearing Loss Association of America","Website__c":"https://www.hearingloss.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2675750"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009933","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1536","Xref__c":"NBK1536"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1434","Source__c":"Gene Review","Xref__c":"NBK1434"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2675750","Source__c":"C2675750","Xref__c":"C2675750"},{"URL__c":"https://www.omim.org/entry/601544","Source__c":"C2675750; MONDO:0011103","Xref__c":"OMIM:601544"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=436512","Source__c":"C2675750","Xref__c":"MEDGEN:436512"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110564","Source__c":"MONDO:0011103","Xref__c":"DOID:0110564"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567277","Source__c":"MONDO:0011103","Xref__c":"C567277"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011103","Source__c":"GARD:0009933","Xref__c":"MONDO:0011103"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GJB2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gjb2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601544","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":[""]}