{"Name":"Autosomal dominant nonsyndromic hearing loss 17","DiseaseID__c":"GARD:0009726","id":9726,"encodedName":"autosomal-dominant-nonsyndromic-hearing-loss-17","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant nonsyndromic hearing loss 17","Xref_IDs__c":"C1863659; DOID:0110548; MEDGEN:350942; MONDO:0011350; OMIM:603622","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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011350","Disease_Description__c":"Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene.","GARD_Name__c":"Autosomal dominant nonsyndromic hearing loss 17","GARD_Synonym__c":"autosomal dominant nonsyndromic deafness 17; deafness, autosomal dominant 17; dfna17 nonsyndromic hearing loss and deafness","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Deafness, autosomal dominant 17 is a condition that can be passed down from parents to their children. It is caused by a change in a gene called MYH9, which is located on chromosome 22q12. This change affects how the ear works and can cause hearing loss.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:603622","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011350","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":"Deafness, autosomal dominant 17 is a condition that can be passed down from parents to their children. It is caused by a change in a gene called MYH9, which is located on chromosome 22q12. This change affects how the ear works and can cause hearing loss.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"autosomal dominant nonsyndromic deafness 17; deafness, autosomal dominant 17; dfna17 nonsyndromic hearing loss and deafness","Name":"Autosomal dominant nonsyndromic hearing loss 17","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009726","Source__c":"RareSource"},{"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/C1863659","Source__c":"C1863659","Xref__c":"C1863659"},{"URL__c":"https://www.omim.org/entry/603622","Source__c":"C1863659; MONDO:0011350","Xref__c":"OMIM:603622"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=350942","Source__c":"C1863659","Xref__c":"MEDGEN:350942"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110548","Source__c":"MONDO:0011350","Xref__c":"DOID:0110548"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011350","Source__c":"GARD:0009726","Xref__c":"MONDO:0011350"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MYH9","GHR_URL__c":"https://medlineplus.gov/genetics/gene/myh9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:603622","Feature__r":{"HPO_Description__c":"A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005101","HPO_Synonym__c":"Hearing loss, high-frequency; High frequency hearing loss; High-frequency deafness; Progressive high frequency hearing loss; Progressive high-frequency hearing loss","HPO_Name__c":"High-frequency hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["autosomal dominant nonsyndromic deafness 17"," deafness, autosomal dominant 17"," dfna17 nonsyndromic hearing loss and deafness"]}