{"Name":"Autosomal dominant nonsyndromic hearing loss 23","DiseaseID__c":"GARD:0001708","id":1708,"encodedName":"autosomal-dominant-nonsyndromic-hearing-loss-23","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant nonsyndromic hearing loss 23","Xref_IDs__c":"C1854594; C565357; DOID:0110553; MEDGEN:343162; MONDO:0011519; OMIM:605192","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:0011519","Disease_Description__c":"Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene.","GARD_Name__c":"Autosomal dominant nonsyndromic hearing loss 23","GARD_Synonym__c":"dfna23 nonsyndromic hearing loss and deafness","Curated_Disease_Description_Source__c":"MONDO:0011519","Curated_Disease_Description__c":"Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:605192","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011519","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":"Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene.","Curated_Disease_Description_Source__c":"MONDO:0011519","GARD_Synonym__c":"dfna23 nonsyndromic hearing loss and deafness","Name":"Autosomal dominant nonsyndromic hearing loss 23","estimateUsa":""}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1854594"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001708","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1434","Source__c":"Gene Review","Xref__c":"NBK1434"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110553","Source__c":"MONDO:0011519","Xref__c":"DOID:0110553"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565357","Source__c":"MONDO:0011519","Xref__c":"C565357"},{"URL__c":"https://www.omim.org/entry/605192","Source__c":"C1854594; MONDO:0011519","Xref__c":"OMIM:605192"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=343162","Source__c":"C1854594","Xref__c":"MEDGEN:343162"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1854594","Source__c":"C1854594","Xref__c":"C1854594"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011519","Source__c":"GARD:0001708","Xref__c":"MONDO:0011519"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SIX1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/six1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:605192","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"}},{"Provided_By__c":"OMIM:605192","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Small indentation anterior to the insertion of the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004467","HPO_Synonym__c":"Ear pit; Pit in front of the ear; Preauricular earpits; Preauricular fistulas; Preauricular pits; Preauricular sinus","HPO_Name__c":"Preauricular pit","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605192","Feature__r":{"HPO_Description__c":"Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000076","HPO_Synonym__c":"Ureteral reflux; Ureteric reflux; Vesico-ureteral reflux; Vesicoureteric reflux; VUR","HPO_Name__c":"Vesicoureteral reflux","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605192","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000405","HPO_Synonym__c":"Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive","HPO_Name__c":"Conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["dfna23 nonsyndromic hearing loss and deafness"]}