{"Name":"Autosomal dominant nonsyndromic hearing loss 22","DiseaseID__c":"GARD:0009167","id":9167,"encodedName":"autosomal-dominant-nonsyndromic-hearing-loss-22","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant nonsyndromic hearing loss 22","Xref_IDs__c":"C2931767; C538197; DOID:0110552; MEDGEN:419894; MONDO:0011660; OMIM:606346","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:0011660","Disease_Description__c":"Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.","GARD_Name__c":"Autosomal dominant nonsyndromic hearing loss 22","GARD_Synonym__c":"autosomal dominant nonsyndromic deafness 22; dfna 22; dfna22 nonsyndromic hearing loss and deafness","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Deafness, autosomal dominant 22 (DFNA22) is a type of hearing loss that is passed down in families. A gene called myosin VI (MYO6) on chromosome 6q14 is responsible for this condition. If you have a change in one copy of this gene, you may develop DFNA22.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:606346","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011660","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 22 (DFNA22) is a type of hearing loss that is passed down in families. A gene called myosin VI (MYO6) on chromosome 6q14 is responsible for this condition. If you have a change in one copy of this gene, you may develop DFNA22.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"autosomal dominant nonsyndromic deafness 22; dfna 22; dfna22 nonsyndromic hearing loss and deafness","Name":"Autosomal dominant nonsyndromic hearing loss 22","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009167","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1434","Source__c":"Gene Review","Xref__c":"NBK1434"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419894","Source__c":"C2931767","Xref__c":"MEDGEN:419894"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110552","Source__c":"MONDO:0011660","Xref__c":"DOID:0110552"},{"URL__c":"https://www.omim.org/entry/606346","Source__c":"C2931767; MONDO:0011660","Xref__c":"OMIM:606346"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931767","Source__c":"C2931767","Xref__c":"C2931767"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538197","Source__c":"MONDO:0011660","Xref__c":"C538197"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011660","Source__c":"GARD:0009167","Xref__c":"MONDO:0011660"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MYO6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:606346","Feature__r":{"HPO_Description__c":"A progressive form of sensorineural hearing impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000408","HPO_Synonym__c":"Bilateral progressive sensorineural hearing loss; Hearing loss, progressive sensorineural; Hearing loss, sensorineural, bilateral, progressive; Hearing loss, sensorineural, progressive; Progressive bilateral sensorineural hearing loss; Sensorineural hearing loss, progressive","HPO_Name__c":"Progressive sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606346","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":["autosomal dominant nonsyndromic deafness 22"," dfna 22"," dfna22 nonsyndromic hearing loss and deafness"]}