{ "id": 19392, "label": "autosomal dominant nonsyndromic hearing loss", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0019587", "properties": { "xrefs": [ "DOID:0050564", "GARD:0016791", "MEDGEN:1843285", "OMIMPS:124900", "Orphanet:90635", "UMLS:C5779548" ], "synonyms": [ "autosomal dominant deafness", "autosomal dominant isolated neurosensory hearing loss type DFNA", "autosomal dominant isolated sensorineural hearing loss type DFNA", "autosomal dominant non-syndromic neurosensory hearing loss type DFNA", "autosomal dominant non-syndromic sensorineural hearing loss type DFNA", "autosomal dominant nonsyndromic hearing impairment", "autosomal dominant nonsyndromic hearing loss", "autosomal dominant isolated deafness", "autosomal dominant isolated neurosensory deafness type DFNA", "autosomal dominant isolated sensorineural deafness type DFNA", "autosomal dominant non-syndromic neurosensory deafness type DFNA", "autosomal dominant non-syndromic sensorineural deafness type DFNA", "autosomal dominant nonsyndromic deafness", "autosomal dominant nonsyndromic genetic deafness", "autosomal dominant nonsyndromic hearing loss and deafness", "deafness, autosomal dominant", "nonsyndromic deafness, autosomal dominant", "nonsyndromic genetic deafness, autosomal dominant" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal dominant form of nonsyndromic deafness." }, "isLeaf": false, "isRoot": false, "child_count": 75, "parents": [ { "id": 2903, "label": "autosomal dominant disease", "isLeaf": false, "isRoot": false, "parents": [ 2905 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050736", "ICD9:758.5", "MEDGEN:539206", "SCTID:11164009", "UMLS:C0265385" ], "synonyms": [ "autosomal dominant disease or disorder", "autosomal dominant hereditary disorder", "autosomal dominant inherited disorder", "disease or disorder, autosomal dominant", "disease, autosomal dominant" ], "definition": "Autosomal dominant form of disease." }, "child_count": 192, "reference_id": "MONDO:0000426" }, { "id": 19315, "label": "nonsyndromic genetic hearing loss", "isLeaf": false, "isRoot": false, "parents": [ 7048, 22991, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050563", "MEDGEN:1830101", "MESH:C580334", "Orphanet:87884", "UMLS:C5680182", "icd11.foundation:1154032108" ], "synonyms": [ "nonsyndromic deafness", "nonsyndromic hearing loss", "nonsyndromic genetic hearing loss", "familial deafness", "isolated genetic deafness", "non-syndromic genetic deafness", "nonsyndromic genetic deafness" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disease characterized by hearing loss that is not part of a larger syndrome." }, "child_count": 18, "reference_id": "MONDO:0019497" } ], "children": [ { "id": 8814, "label": "autosomal dominant nonsyndromic hearing loss 1", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110541", "GARD:0024557", "MEDGEN:343767", "MESH:C565121", "OMIM:124900", "UMLS:C1852282" ], "synonyms": [ "Konigsmark syndrome", "DFNA1", "DIAPH1 autosomal dominant nonsyndromic deafness", "autosomal dominant deafness 1", "autosomal dominant nonsyndromic deafness 1", "autosomal dominant nonsyndromic deafness caused by mutation in DIAPH1", "autosomal dominant nonsyndromic deafness type 1", "deafness, autosomal dominant 1", "deafness, autosomal dominant 1, with or without thrombocytopenia", "deafness, autosomal dominant type 1", "deafness, progressive Low tone", "hereditary Low frequency hearing loss" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene." }, "child_count": 0, "reference_id": "MONDO:0007424" }, { "id": 11953, "label": "autosomal dominant nonsyndromic hearing loss 2A", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110558", "GARD:0018099", "MEDGEN:436997", "MESH:C567441", "OMIM:600101", "UMLS:C2677637" ], "synonyms": [ "DFNA2A", "KCNQ4 autosomal dominant nonsyndromic deafness", "autosomal dominant deafness 2A", "autosomal dominant nonsyndromic deafness 2A", "autosomal dominant nonsyndromic deafness caused by mutation in KCNQ4", "autosomal dominant nonsyndromic deafness type 2A", "deafness, autosomal dominant 2A", "deafness, autosomal dominant 2a", "deafness, autosomal dominant type 2A" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene." }, "child_count": 0, "reference_id": "MONDO:0010817" }, { "id": 12048, "label": "autosomal dominant nonsyndromic hearing loss 4A", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110573", "GARD:0018100", "MEDGEN:322209", "MESH:C563460", "OMIM:600652", "UMLS:C1833503" ], "synonyms": [ "DFNA4A", "MYH14 autosomal dominant nonsyndromic deafness", "autosomal dominant deafness 4A", "autosomal dominant nonsyndromic deafness 4A", "autosomal dominant nonsyndromic deafness caused by mutation in MYH14", "autosomal dominant nonsyndromic deafness type 4A", "deafness, autosomal dominant 4", "deafness, autosomal dominant 4A", "deafness, autosomal dominant 4a", "deafness, autosomal dominant type 4A" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene." }, "child_count": 0, "reference_id": "MONDO:0010915" }, { "id": 12092, "label": "autosomal dominant nonsyndromic hearing loss 6", "isLeaf": true, "isRoot": false, "parents": [ 19392, 24687 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110584", "GARD:0018101", "MEDGEN:331419", "MESH:C563421", "OMIM:600965", "UMLS:C1833021" ], "synonyms": [ "DFNA14", "DFNA38", "DFNA6", "WFS1 autosomal dominant nonsyndromic deafness", "autosomal dominant deafness 14", "autosomal dominant deafness 38", "autosomal dominant deafness 6", "autosomal dominant nonsyndromic deafness 6", "autosomal dominant nonsyndromic deafness caused by mutation in WFS1", "autosomal dominant nonsyndromic deafness type 6", "deafness, autosomal dominant 14", "deafness, autosomal dominant 38", "deafness, autosomal dominant 6", "deafness, autosomal dominant 6/14/38", "deafness, autosomal dominant type 6" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene." }, "child_count": 0, "reference_id": "MONDO:0010963" }, { "id": 12102, "label": "autosomal dominant nonsyndromic hearing loss 5", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110575", "GARD:0018102", "MEDGEN:331398", "MESH:C563410", "OMIM:600994", "UMLS:C1832932" ], "synonyms": [ "DFNA5", "GSDME autosomal dominant nonsyndromic deafness", "autosomal dominant deafness 5", "autosomal dominant nonsyndromic deafness 5", "autosomal dominant nonsyndromic deafness caused by mutation in GSDME", "autosomal dominant nonsyndromic deafness type 5", "deafness, autosomal dominant 5", "deafness, autosomal dominant type 5" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene." }, "child_count": 0, "reference_id": "MONDO:0010973" }, { "id": 12157, "label": "autosomal dominant nonsyndromic hearing loss 10", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110542", "GARD:0018103", "MEDGEN:321966", "MESH:C563354", "OMIM:601316", "UMLS:C1832476" ], "synonyms": [ "autosomal dominant nonsyndromic hearing loss 10", "DFNA10", "EYA4 autosomal dominant nonsyndromic deafness", "autosomal dominant deafness 10", "autosomal dominant nonsyndromic deafness 10", "autosomal dominant nonsyndromic deafness caused by mutation in EYA4", "autosomal dominant nonsyndromic deafness type 10", "deafness, autosomal dominant 10", "deafness, autosomal dominant type 10" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene." }, "child_count": 0, "reference_id": "MONDO:0011031" }, { "id": 12158, "label": "autosomal dominant nonsyndromic hearing loss 11", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110543", "GARD:0018104", "MEDGEN:331297", "MESH:C563353", "OMIM:601317", "UMLS:C1832475" ], "synonyms": [ "DFNA11", "MYO7A autosomal dominant nonsyndromic deafness", "autosomal dominant deafness 11", "autosomal dominant nonsyndromic deafness 11", "autosomal dominant nonsyndromic deafness caused by mutation in MYO7A", "autosomal dominant nonsyndromic deafness type 11", "deafness, autosomal dominant 11", "deafness, autosomal dominant type 11" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene." }, "child_count": 0, "reference_id": "MONDO:0011032" }, { "id": 12184, "label": "autosomal dominant nonsyndromic hearing loss 9", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110593", "GARD:0018105", "MEDGEN:371327", "MESH:C563335", "OMIM:601369", "UMLS:C1832425" ], "synonyms": [ "COCH autosomal dominant nonsyndromic deafness", "DFNA9", "autosomal dominant deafness 9", "autosomal dominant nonsyndromic deafness 9", "autosomal dominant nonsyndromic deafness caused by mutation in COCH", "autosomal dominant nonsyndromic deafness type 9", "deafness, autosomal dominant 9", "deafness, autosomal dominant type 9" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene." }, "child_count": 0, "reference_id": "MONDO:0011058" }, { "id": 12200, "label": "autosomal dominant nonsyndromic hearing loss 7", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110591", "GARD:0018106", "MEDGEN:318614", "MESH:C563321", "OMIM:601412", "UMLS:C1832379" ], "synonyms": [ "DFNA7", "autosomal dominant deafness 7", "autosomal dominant nonsyndromic deafness 7", "autosomal dominant nonsyndromic deafness type 7", "deafness, autosomal dominant 7" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23." }, "child_count": 0, "reference_id": "MONDO:0011074" }, { "id": 12228, "label": "autosomal dominant nonsyndromic hearing loss 12", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110544", "GARD:0018107", "MEDGEN:321902", "MESH:C563295", "OMIM:601543", "UMLS:C1832187" ], "synonyms": [ "autosomal dominant nonsyndromic hearing loss 12", "DFNA12", "DFNA8", "TECTA autosomal dominant nonsyndromic deafness", "autosomal dominant deafness 12", "autosomal dominant deafness 8", "autosomal dominant nonsyndromic deafness 12", "autosomal dominant nonsyndromic deafness caused by mutation in TECTA", "autosomal dominant nonsyndromic deafness type 12", "deafness, autosomal dominant 12", "deafness, autosomal dominant 8", "deafness, autosomal dominant 8/12", "deafness, autosomal dominant type 12" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene." }, "child_count": 0, "reference_id": "MONDO:0011102" }, { "id": 12229, "label": "autosomal dominant nonsyndromic hearing loss 3A", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110564", "GARD:0009933", "MEDGEN:436512", "MESH:C567277", "OMIM:601544", "UMLS:C2675750" ], "synonyms": [ "DFNA3", "DFNA3A", "GJB2 autosomal dominant nonsyndromic deafness", "NSRD1", "autosomal dominant deafness 3A", "autosomal dominant nonsyndromic deafness 3A", "autosomal dominant nonsyndromic deafness caused by mutation in GJB2", "autosomal dominant nonsyndromic deafness type 3A", "deafness, autosomal dominant 3A", "deafness, autosomal dominant 3a", "deafness, autosomal dominant nonsyndromic sensorineural 3", "deafness, autosomal dominant type 3A", "neurosensory nonsyndromic dominant deafness 1" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene." }, "child_count": 0, "reference_id": "MONDO:0011103" }, { "id": 12281, "label": "autosomal dominant nonsyndromic hearing loss 13", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110545", "GARD:0018108", "MEDGEN:400917", "MESH:C566612", "OMIM:601868", "UMLS:C1866095" ], "synonyms": [ "COL11A2 autosomal dominant nonsyndromic deafness", "DFNA13", "autosomal dominant deafness 13", "autosomal dominant nonsyndromic deafness 13", "autosomal dominant nonsyndromic deafness caused by mutation in COL11A2", "autosomal dominant nonsyndromic deafness type 13", "deafness, autosomal dominant 13", "deafness, autosomal dominant type 13" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene." }, "child_count": 0, "reference_id": "MONDO:0011159" }, { "id": 12346, "label": "autosomal dominant nonsyndromic hearing loss 15", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110546", "GARD:0018109", "MEDGEN:355451", "MESH:C566545", "OMIM:602459", "UMLS:C1865366" ], "synonyms": [ "DFNA15", "POU4F3 autosomal dominant nonsyndromic deafness", "autosomal dominant deafness 15", "autosomal dominant nonsyndromic deafness 15", "autosomal dominant nonsyndromic deafness caused by mutation in POU4F3", "autosomal dominant nonsyndromic deafness type 15", "deafness, autosomal dominant 15", "deafness, autosomal dominant type 15" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene." }, "child_count": 0, "reference_id": "MONDO:0011226" }, { "id": 12460, "label": "autosomal dominant nonsyndromic hearing loss 17", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110548", "GARD:0009726", "MEDGEN:350942", "OMIM:603622", "UMLS:C1863659" ], "synonyms": [ "DFNA17", "MYH9 autosomal dominant nonsyndromic deafness", "autosomal dominant deafness 17", "autosomal dominant nonsyndromic deafness 17", "autosomal dominant nonsyndromic deafness caused by mutation in MYH9", "autosomal dominant nonsyndromic deafness type 17", "deafness, autosomal dominant 17", "deafness, autosomal dominant nonsyndromic sensorineural 17", "deafness, autosomal dominant type 17", "nonsyndromic hereditary deafness DFNA17", "cochleosaccular degeneration", "late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene." }, "child_count": 0, "reference_id": "MONDO:0011350" }, { "id": 12495, "label": "autosomal dominant nonsyndromic hearing loss 16", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110547", "GARD:0018110", "MEDGEN:349054", "MESH:C565832", "OMIM:603964", "UMLS:C1858916" ], "synonyms": [ "DFNA16", "autosomal dominant deafness 16", "autosomal dominant nonsyndromic deafness 16", "autosomal dominant nonsyndromic deafness type 16", "deafness, autosomal dominant 16" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3." }, "child_count": 0, "reference_id": "MONDO:0011389" }, { "id": 12582, "label": "autosomal dominant nonsyndromic hearing loss 20", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110550", "GARD:0018111", "MEDGEN:346852", "MESH:C565754", "OMIM:604717", "UMLS:C1858172" ], "synonyms": [ "ACTG1 autosomal dominant nonsyndromic deafness", "DFNA20", "DFNA26", "autosomal dominant deafness 20", "autosomal dominant nonsyndromic deafness 20", "autosomal dominant nonsyndromic deafness caused by mutation in ACTG1", "autosomal dominant nonsyndromic deafness type 20", "deafness, autosomal dominant 20", "deafness, autosomal dominant 20/26", "deafness, autosomal dominant type 20" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene." }, "child_count": 0, "reference_id": "MONDO:0011480" }, { "id": 12618, "label": "autosomal dominant nonsyndromic hearing loss 23", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110553", "GARD:0001708", "MEDGEN:343162", "MESH:C565357", "OMIM:605192", "UMLS:C1854594" ], "synonyms": [ "DFNA 23", "DFNA23", "SIX1 autosomal dominant nonsyndromic deafness", "autosomal dominant deafness 23", "autosomal dominant nonsyndromic deafness 23", "autosomal dominant nonsyndromic deafness caused by mutation in SIX1", "autosomal dominant nonsyndromic deafness type 23", "deafness, autosomal dominant 23", "deafness, autosomal dominant nonsyndromic sensorineural 23", "deafness, autosomal dominant type 23" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene." }, "child_count": 0, "reference_id": "MONDO:0011519" }, { "id": 12664, "label": "autosomal dominant nonsyndromic hearing loss 25", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110555", "GARD:0018112", "MEDGEN:344221", "MESH:C565319", "OMIM:605583", "UMLS:C1854158" ], "synonyms": [ "DFNA25", "SLC17A8 autosomal dominant nonsyndromic deafness", "autosomal dominant deafness 25", "autosomal dominant nonsyndromic deafness 25", "autosomal dominant nonsyndromic deafness caused by mutation in SLC17A8", "autosomal dominant nonsyndromic deafness type 25", "deafness, autosomal dominant 25", "deafness, autosomal dominant type 25" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene." }, "child_count": 0, "reference_id": "MONDO:0011568" }, { "id": 12720, "label": "autosomal dominant nonsyndromic hearing loss 18", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110549", "GARD:0018113", "MEDGEN:340051", "MESH:C565267", "OMIM:606012", "UMLS:C1853760" ], "synonyms": [ "DFNA18", "autosomal dominant deafness 18", "autosomal dominant nonsyndromic deafness 18", "autosomal dominant nonsyndromic deafness type 18", "deafness, autosomal dominant 18" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22." }, "child_count": 0, "reference_id": "MONDO:0011625" }, { "id": 12749, "label": "autosomal dominant nonsyndromic hearing loss 24", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110554", "GARD:0009166", "MEDGEN:377905", "MESH:C565239", "OMIM:606282", "UMLS:C1853451" ], "synonyms": [ "DFNA 24", "DFNA24", "autosomal dominant deafness 24", "autosomal dominant nonsyndromic deafness 24", "autosomal dominant nonsyndromic deafness type 24", "deafness, autosomal dominant 24", "deafness, autosomal dominant nonsyndromic sensorineural 24" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter." }, "child_count": 0, "reference_id": "MONDO:0011657" }, { "id": 12752, "label": "autosomal dominant nonsyndromic hearing loss 22", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110552", "GARD:0009167", "MEDGEN:419894", "MESH:C538197", "OMIM:606346", "UMLS:C2931767" ], "synonyms": [ "DFNA22", "MYO6 autosomal dominant nonsyndromic deafness", "autosomal dominant deafness 22", "autosomal dominant nonsyndromic deafness 22", "autosomal dominant nonsyndromic deafness caused by mutation in MYO6", "autosomal dominant nonsyndromic deafness type 22", "deafness, autosomal dominant 22", "deafness, autosomal dominant 22, with hypertrophic cardiomyopathy", "deafness, autosomal dominant nonsyndromic sensorineural 22", "deafness, autosomal dominant type 22", "DFNA 22" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene." }, "child_count": 0, "reference_id": "MONDO:0011660" }, { "id": 12763, "label": "autosomal dominant nonsyndromic hearing loss 30", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110560", "GARD:0018114", "MEDGEN:341116", "MESH:C564706", "OMIM:606451", "UMLS:C1847972" ], "synonyms": [ "DFNA30", "autosomal dominant deafness 30", "autosomal dominant nonsyndromic deafness 30", "autosomal dominant nonsyndromic deafness type 30", "deafness, autosomal dominant 30" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26." }, "child_count": 0, "reference_id": "MONDO:0011673" }, { "id": 12795, "label": "autosomal dominant nonsyndromic hearing loss 36", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110563", "GARD:0018115", "MEDGEN:376173", "MESH:C564675", "OMIM:606705", "UMLS:C1847626" ], "synonyms": [ "DFNA36", "TMC1 autosomal dominant nonsyndromic deafness", "autosomal dominant deafness 36", "autosomal dominant nonsyndromic deafness 36", "autosomal dominant nonsyndromic deafness caused by mutation in TMC1", "autosomal dominant nonsyndromic deafness type 36", "deafness, autosomal dominant 36", "deafness, autosomal dominant type 36" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene." }, "child_count": 0, "reference_id": "MONDO:0011708" }, { "id": 12847, "label": "autosomal dominant nonsyndromic hearing loss 21", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110551", "GARD:0018116", "MEDGEN:339643", "MESH:C564634", "OMIM:607017", "UMLS:C1846922" ], "synonyms": [ "DFNA21", "autosomal dominant deafness 21", "autosomal dominant nonsyndromic deafness 21", "autosomal dominant nonsyndromic deafness type 21", "deafness, autosomal dominant 21" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3." }, "child_count": 0, "reference_id": "MONDO:0011761" }, { "id": 12913, "label": "autosomal dominant nonsyndromic hearing loss 44", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110569", "GARD:0018118", "MEDGEN:334525", "MESH:C564399", "OMIM:607453", "UMLS:C1843895" ], "synonyms": [ "CCDC50 autosomal dominant nonsyndromic deafness", "DFNA44", "autosomal dominant deafness 44", "autosomal dominant nonsyndromic deafness 44", "autosomal dominant nonsyndromic deafness caused by mutation in CCDC50", "autosomal dominant nonsyndromic deafness type 44", "deafness, autosomal dominant 44", "deafness, autosomal dominant type 44" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene." }, "child_count": 0, "reference_id": "MONDO:0011832" }, { "id": 12994, "label": "autosomal dominant nonsyndromic hearing loss 48", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110571", "GARD:0018120", "MEDGEN:375052", "MESH:C564322", "OMIM:607841", "UMLS:C1842939" ], "synonyms": [ "DFNA48", "MYO1A autosomal dominant nonsyndromic deafness", "autosomal dominant deafness 48", "autosomal dominant nonsyndromic deafness 48", "autosomal dominant nonsyndromic deafness type 48", "deafness, autosomal dominant 48", "deafness, autosomal dominant type 48" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0011920" }, { "id": 13065, "label": "autosomal dominant nonsyndromic hearing loss 41", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110567", "GARD:0018121", "MEDGEN:330834", "MESH:C564272", "OMIM:608224", "UMLS:C1842371" ], "synonyms": [ "DFNA41", "P2RX2 autosomal dominant nonsyndromic deafness", "autosomal dominant deafness 41", "autosomal dominant nonsyndromic deafness 41", "autosomal dominant nonsyndromic deafness caused by mutation in P2RX2", "autosomal dominant nonsyndromic deafness type 41", "deafness, autosomal dominant 41", "deafness, autosomal dominant type 41" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene." }, "child_count": 0, "reference_id": "MONDO:0011994" }, { "id": 13092, "label": "autosomal dominant nonsyndromic hearing loss 49", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110572", "GARD:0018122", "MEDGEN:331222", "MESH:C564250", "OMIM:608372", "UMLS:C1842136" ], "synonyms": [ "DFNA49", "autosomal dominant deafness 49", "autosomal dominant nonsyndromic deafness 49", "autosomal dominant nonsyndromic deafness type 49", "deafness, autosomal dominant 49" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23." }, "child_count": 0, "reference_id": "MONDO:0012023" }, { "id": 13098, "label": "autosomal dominant nonsyndromic hearing loss 43", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110568", "GARD:0018123", "MEDGEN:330769", "MESH:C564246", "OMIM:608394", "UMLS:C1842108" ], "synonyms": [ "DFNA43", "autosomal dominant deafness 43", "autosomal dominant nonsyndromic deafness 43", "autosomal dominant nonsyndromic deafness type 43", "deafness, autosomal dominant 43" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12." }, "child_count": 0, "reference_id": "MONDO:0012030" }, { "id": 13149, "label": "autosomal dominant nonsyndromic hearing loss 28", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110557", "GARD:0018124", "MEDGEN:324846", "MESH:C563890", "OMIM:608641", "UMLS:C1837640" ], "synonyms": [ "DFNA28", "GRHL2 autosomal dominant nonsyndromic deafness", "autosomal dominant deafness 28", "autosomal dominant nonsyndromic deafness 28", "autosomal dominant nonsyndromic deafness caused by mutation in GRHL2", "autosomal dominant nonsyndromic deafness type 28", "deafness, autosomal dominant 28", "deafness, autosomal dominant type 28" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene." }, "child_count": 0, "reference_id": "MONDO:0012083" }, { "id": 13152, "label": "autosomal dominant nonsyndromic hearing loss 31", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110561", "GARD:0018125", "MEDGEN:325209", "MESH:C563888", "OMIM:608645", "UMLS:C1837617" ], "synonyms": [ "DFNA31", "autosomal dominant deafness 31", "autosomal dominant nonsyndromic deafness 31", "autosomal dominant nonsyndromic deafness type 31", "deafness, autosomal dominant 31" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3." }, "child_count": 0, "reference_id": "MONDO:0012086" }, { "id": 13156, "label": "autosomal dominant nonsyndromic hearing loss 47", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110570", "GARD:0018126", "MEDGEN:324838", "MESH:C563885", "OMIM:608652", "UMLS:C1837609" ], "synonyms": [ "DFNA47", "autosomal dominant deafness 47", "autosomal dominant nonsyndromic deafness 47", "autosomal dominant nonsyndromic deafness type 47", "deafness, autosomal dominant 47" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21." }, "child_count": 0, "reference_id": "MONDO:0012090" }, { "id": 13258, "label": "autosomal dominant auditory neuropathy 1", "isLeaf": true, "isRoot": false, "parents": [ 19392, 20787 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060690", "GARD:0018127", "MEDGEN:322984", "MESH:C563790", "OMIM:609129", "UMLS:C1836743" ], "synonyms": [ "AUNA1", "DIAPH3 auditory neuropathy", "NSDAN", "auditory neuropathy caused by mutation in DIAPH3", "auditory neuropathy, autosomal dominant, type 1", "autosomal dominant auditory neuropathy type 1", "auditory neuropathy, autosomal dominant, 1", "auditory neuropathy, nonsyndromic dominant" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene." }, "child_count": 0, "reference_id": "MONDO:0012196" }, { "id": 13431, "label": "autosomal dominant nonsyndromic hearing loss 53", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110579", "GARD:0009934", "MEDGEN:355336", "MESH:C566495", "OMIM:609965", "UMLS:C1864957" ], "synonyms": [ "DFNA53", "autosomal dominant deafness 53", "autosomal dominant nonsyndromic deafness 53", "autosomal dominant nonsyndromic deafness type 53", "deafness, autosomal dominant 53", "deafness, autosomal dominant nonsyndromic sensorineural 53" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12." }, "child_count": 0, "reference_id": "MONDO:0012380" }, { "id": 13942, "label": "autosomal dominant nonsyndromic hearing loss 27", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110556", "GARD:0018128", "MEDGEN:854637", "OMIM:612431", "UMLS:C3887929" ], "synonyms": [ "DFNA27", "autosomal dominant deafness 27", "autosomal dominant nonsyndromic deafness 27", "autosomal dominant nonsyndromic deafness type 27", "deafness, autosomal dominant 27" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1." }, "child_count": 0, "reference_id": "MONDO:0012902" }, { "id": 14014, "label": "autosomal dominant nonsyndromic hearing loss 59", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110583", "GARD:0018129", "MEDGEN:390743", "MESH:C567216", "OMIM:612642", "UMLS:C2675238" ], "synonyms": [ "DFNA59", "autosomal dominant deafness 59", "autosomal dominant nonsyndromic deafness 59", "autosomal dominant nonsyndromic deafness type 59", "deafness, autosomal dominant 59" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3." }, "child_count": 0, "reference_id": "MONDO:0012974" }, { "id": 14015, "label": "autosomal dominant nonsyndromic hearing loss 3B", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110565", "GARD:0018130", "MEDGEN:436382", "MESH:C567215", "OMIM:612643", "UMLS:C2675237" ], "synonyms": [ "DFNA3B", "GJB6 autosomal dominant nonsyndromic deafness", "autosomal dominant deafness 3B", "autosomal dominant nonsyndromic deafness 3B", "autosomal dominant nonsyndromic deafness caused by mutation in GJB6", "autosomal dominant nonsyndromic deafness type 3B", "deafness, autosomal dominant 3B", "deafness, autosomal dominant 3b", "deafness, autosomal dominant type 3B" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene." }, "child_count": 0, "reference_id": "MONDO:0012975" }, { "id": 14016, "label": "autosomal dominant nonsyndromic hearing loss 2B", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110559", "GARD:0018131", "MEDGEN:390742", "MESH:C567214", "OMIM:612644", "UMLS:C2675236" ], "synonyms": [ "DFNA2B", "GJB3 autosomal dominant nonsyndromic deafness", "autosomal dominant deafness 2B", "autosomal dominant nonsyndromic deafness 2B", "autosomal dominant nonsyndromic deafness caused by mutation in GJB3", "autosomal dominant nonsyndromic deafness type 2B", "deafness, autosomal dominant 2B", "deafness, autosomal dominant 2b", "deafness, autosomal dominant type 2B" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene." }, "child_count": 0, "reference_id": "MONDO:0012976" }, { "id": 14152, "label": "autosomal dominant nonsyndromic hearing loss 50", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110576", "GARD:0018132", "MEDGEN:854780", "OMIM:613074", "UMLS:C3888123" ], "synonyms": [ "DFNA50", "autosomal dominant deafness 50", "autosomal dominant nonsyndromic deafness 50", "autosomal dominant nonsyndromic deafness type 50", "deafness, autosomal dominant type 50", "deafness, autosomal dominant 50" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32." }, "child_count": 0, "reference_id": "MONDO:0013114" }, { "id": 14340, "label": "autosomal dominant nonsyndromic hearing loss 51", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110577", "GARD:0018133", "MEDGEN:463625", "OMIM:613558", "UMLS:C3160736" ], "synonyms": [ "chromosome 9q21.11 duplication syndrome", "DFNA51", "autosomal dominant deafness 51", "autosomal dominant nonsyndromic deafness 51", "autosomal dominant nonsyndromic deafness type 51", "chromosome 9Q21.11 Duplication syndrome", "deafness, autosomal dominant 51", "deafness, autosomal dominant type 51" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes." }, "child_count": 0, "reference_id": "MONDO:0013305" }, { "id": 14620, "label": "autosomal dominant nonsyndromic hearing loss 64", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110585", "GARD:0018134", "MEDGEN:481578", "OMIM:614152", "UMLS:C3279948" ], "synonyms": [ "DFNA64", "DIABLO autosomal dominant nonsyndromic deafness", "autosomal dominant deafness 64", "autosomal dominant nonsyndromic deafness 64", "autosomal dominant nonsyndromic deafness caused by mutation in DIABLO", "autosomal dominant nonsyndromic deafness type 64", "deafness, autosomal dominant 64", "deafness, autosomal dominant type 64" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene." }, "child_count": 0, "reference_id": "MONDO:0013593" }, { "id": 14657, "label": "autosomal dominant nonsyndromic hearing loss 33", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110562", "GARD:0018135", "MEDGEN:854638", "OMIM:614211", "UMLS:C3887930" ], "synonyms": [ "DFNA33", "autosomal dominant deafness 33", "autosomal dominant nonsyndromic deafness 33", "autosomal dominant nonsyndromic deafness type 33", "deafness, autosomal dominant 33" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34." }, "child_count": 0, "reference_id": "MONDO:0013632" }, { "id": 14837, "label": "autosomal dominant nonsyndromic hearing loss 4B", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110574", "GARD:0018136", "MEDGEN:482927", "OMIM:614614", "UMLS:C3281297" ], "synonyms": [ "CEACAM16 autosomal dominant nonsyndromic deafness", "DFNA4B", "autosomal dominant deafness 4B", "autosomal dominant nonsyndromic deafness 4B", "autosomal dominant nonsyndromic deafness caused by mutation in CEACAM16", "autosomal dominant nonsyndromic deafness type 4B", "deafness, autosomal dominant 4B", "deafness, autosomal dominant 4b", "deafness, autosomal dominant type 4B" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene." }, "child_count": 0, "reference_id": "MONDO:0013823" }, { "id": 15287, "label": "autosomal dominant nonsyndromic hearing loss 56", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110581", "GARD:0018137", "MEDGEN:816500", "OMIM:615629", "UMLS:C3810170" ], "synonyms": [ "DFNA56", "TNC autosomal dominant nonsyndromic deafness", "autosomal dominant deafness 56", "autosomal dominant nonsyndromic deafness 56", "autosomal dominant nonsyndromic deafness caused by mutation in TNC", "autosomal dominant nonsyndromic deafness type 56", "deafness, autosomal dominant 56", "deafness, autosomal dominant type 56" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TNC gene." }, "child_count": 0, "reference_id": "MONDO:0014283" }, { "id": 15295, "label": "autosomal dominant nonsyndromic hearing loss 54", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110580", "GARD:0018138", "MEDGEN:854731", "OMIM:615649", "UMLS:C3888029" ], "synonyms": [ "DFNA54", "autosomal dominant deafness 54", "autosomal dominant nonsyndromic deafness 54", "autosomal dominant nonsyndromic deafness type 54", "deafness, autosomal dominant 54" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31." }, "child_count": 0, "reference_id": "MONDO:0014291" }, { "id": 15297, "label": "autosomal dominant nonsyndromic hearing loss 58", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110582", "GARD:0018139", "MEDGEN:854817", "OMIM:615654", "UMLS:C3888210" ], "synonyms": [ "DFNA58", "autosomal dominant deafness 58", "autosomal dominant nonsyndromic deafness 58", "autosomal dominant nonsyndromic deafness type 58", "deafness, autosomal dominant 58" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12." }, "child_count": 0, "reference_id": "MONDO:0014293" }, { "id": 15469, "label": 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"isLeaf": true, "isRoot": false, "parents": [ 19392 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110588", "GARD:0018141", "MEDGEN:900413", "OMIM:616340", "UMLS:C4084712" ], "synonyms": [ "DFNA67", "OSBPL2 autosomal dominant nonsyndromic deafness", "autosomal dominant deafness 67", "autosomal dominant nonsyndromic deafness 67", "autosomal dominant nonsyndromic deafness caused by mutation in OSBPL2", "autosomal dominant nonsyndromic deafness type 67", "deafness, autosomal dominant 67", "deafness, autosomal dominant type 67" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene." }, "child_count": 0, "reference_id": "MONDO:0014594" }, { "id": 15601, "label": "autosomal dominant nonsyndromic hearing loss 40", "isLeaf": true, "isRoot": false, "parents": [ 19392 ], 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