{ "id": 19393, "label": "hearing loss, autosomal recessive", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0019588", "properties": { "xrefs": [ "DOID:0050565", "GARD:0018117", "MEDGEN:337623", "MESH:C564609", "OMIM:607197", "OMIMPS:220290", "Orphanet:90636", "UMLS:C1846647" ], "synonyms": [ "hearing loss, autosomal recessive", "autosomal recessive isolated neurosensory deafness type DFNB", "autosomal recessive isolated sensorineural deafness type DFNB", "autosomal recessive non-syndromic neurosensory deafness type DFNB", "autosomal recessive non-syndromic sensorineural deafness type DFNB", "autosomal recessive nonsyndromic deafness", "autosomal recessive nonsyndromic genetic deafness", "deafness, autosomal recessive", "deafness, neurosensory nonsyndromic recessive, DFN", "nonsyndromic deafness, autosomal recessive", "nonsyndromic genetic deafness, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive form of nonsyndromic deafness." }, "isLeaf": false, "isRoot": false, "child_count": 102, "parents": [ { "id": 7611, "label": "autosomal recessive disease", "isLeaf": false, "isRoot": false, "parents": [ 2905 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050737", "EFO:1000017", "ICD9:758.5", "MEDGEN:539209", "SCTID:85995004", "UMLS:C0265388" ], "synonyms": [ "autosomal recessive disease or disorder", "autosomal recessive hereditary disease", "autosomal recessive hereditary disorder", "autosomal recessive inherited disease", "autosomal recessive inherited disorder", "disease or disorder, autosomal recessive", "disease, autosomal recessive", "recessive hereditary disorder (autosomal)" ], "definition": "Autosomal recessive form of disease." }, "child_count": 219, "reference_id": "MONDO:0006025" }, { "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": 3184, "label": "autosomal recessive nonsyndromic hearing loss 5", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110507", "GARD:0022585", "MEDGEN:331485", "MESH:C563444", "OMIM:600792", "UMLS:C1833319" ], "synonyms": [ "DFNB5", "autosomal recessive deafness 5", "autosomal recessive nonsyndromic deafness 5", "autosomal recessive nonsyndromic deafness type 5", "deafness, autosomal recessive 5", "neurosensory nonsyndromic recessive deafness 5" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12." }, "child_count": 0, "reference_id": "MONDO:0000912" }, { "id": 10325, "label": "autosomal recessive nonsyndromic hearing loss 1A", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110475", "GARD:0001697", "MEDGEN:388720", "MESH:C567134", "NCIT:C129022", "OMIM:220290", "UMLS:C2673759" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 1A", "deafness, digenic GJB2/GJB6, Autosomal recessive, Digenic dominant", "deafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominant", "DFNB1", "DFNB1A", "GJB2-related deafness", "autosomal recessive deafness 1A", "autosomal recessive nonsyndromic deafness 1A", "autosomal recessive nonsyndromic deafness type 1A", "connexin 26 deafness", "deafness nonsyndromic, connexin 26 linked", "deafness, autosomal recessive 1A", "deafness, autosomal recessive 1a, autosomal recessive, digenic dominant", "deafness, autosomal recessive type 1A", "deafness, digenic, GJB2/GJB3", "deafness, digenic, GJB2/GJB6" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction." }, "child_count": 0, "reference_id": "MONDO:0009076" }, { "id": 11943, "label": "autosomal recessive nonsyndromic hearing loss 2", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110477", "GARD:0022582", "MEDGEN:325485", "MESH:C564007", "OMIM:600060", "UMLS:C1838701" ], "synonyms": [ "DFNB2", "MYO7A autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 2", "autosomal recessive nonsyndromic deafness 2", "autosomal recessive nonsyndromic deafness caused by mutation in MYO7A", "autosomal recessive nonsyndromic deafness type 2", "deafness, autosomal recessive 2", "deafness, autosomal recessive type 2", "neurosensory nonsyndromic recessive deafness 2" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene." }, "child_count": 0, "reference_id": "MONDO:0010807" }, { "id": 11994, "label": "autosomal recessive nonsyndromic hearing loss 3", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110488", "GARD:0022583", "MEDGEN:325373", "MESH:C563961", "OMIM:600316", "UMLS:C1838263" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 3", "DFNB3", "MYO15A autosomal recessive nonsyndromic deafness", "NRSD3", "autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3", "autosomal recessive nonsyndromic deafness 3", "autosomal recessive nonsyndromic deafness caused by mutation in MYO15A", "autosomal recessive nonsyndromic deafness type 3", "deafness, autosomal recessive 3", "deafness, autosomal recessive type 3", "neurosensory nonsyndromic recessive deafness 3" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene." }, "child_count": 0, "reference_id": "MONDO:0010860" }, { "id": 12066, "label": "autosomal recessive nonsyndromic hearing loss 4", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110498", "GARD:0022584", "MEDGEN:761234", "MESH:C566366", "OMIM:600791", "UMLS:C3538946" ], "synonyms": [ "enlarged vestibular aqueduct", "enlarged vestibular aqueduct, digenic", "DFNB4", "autosomal recessive deafness 4 with enlarged vestibular aqueduct", "autosomal recessive nonsyndromic deafness 4", "autosomal recessive nonsyndromic deafness type 4", "deafness, autosomal recessive 4, with enlarged vestibular aqueduct", "neurosensory nonsyndromic recessive deafness 4", "dilated vestibular aqueduct" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes." }, "child_count": 0, "reference_id": "MONDO:0010933" }, { "id": 12094, "label": "autosomal recessive nonsyndromic hearing loss 6", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110512", "GARD:0022586", "MEDGEN:322088", "MESH:C563418", "OMIM:600971", "UMLS:C1832992" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 6", "DFNB6", "TMIE autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 6", "autosomal recessive nonsyndromic deafness 6", "autosomal recessive nonsyndromic deafness caused by mutation in TMIE", "autosomal recessive nonsyndromic deafness type 6", "deafness, autosomal recessive 6", "deafness, autosomal recessive type 6", "neurosensory nonsyndromic recessive deafness 6" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene." }, "child_count": 0, "reference_id": "MONDO:0010965" }, { "id": 12096, "label": "autosomal recessive nonsyndromic hearing loss 7", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110520", "GARD:0022587", "MEDGEN:322084", "MESH:C563417", "OMIM:600974", "UMLS:C1832978" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 7", "DFNB11", "DFNB7", "TMC1 autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 7", "autosomal recessive nonsyndromic deafness 7", "autosomal recessive nonsyndromic deafness caused by mutation in TMC1", "autosomal recessive nonsyndromic deafness type 7", "deafness, autosomal recessive 11", "deafness, autosomal recessive 7", "deafness, autosomal recessive type 7" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene." }, "child_count": 0, "reference_id": "MONDO:0010967" }, { "id": 12114, "label": "autosomal recessive nonsyndromic hearing loss 9", "isLeaf": true, "isRoot": false, "parents": [ 19393, 20787 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110535", "GARD:0022588", "MEDGEN:331376", "OMIM:601071", "UMLS:C1832828" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 9", "DFNB9", "NRSD9", "OTOF autosomal recessive nonsyndromic deafness", "auditory neuropathy, autosomal recessive, 1", "auditory neuropathy, nonsyndromic recessive", "autosomal recessive deafness 9", "autosomal recessive nonsyndromic deafness 9", "autosomal recessive nonsyndromic deafness caused by mutation in OTOF", "autosomal recessive nonsyndromic deafness type 9", "deafness, autosomal recessive 9", "deafness, autosomal recessive type 9", "neurosensory nonsyndromic recessive deafness 9" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene." }, "child_count": 0, "reference_id": "MONDO:0010986" }, { "id": 12115, "label": "autosomal recessive nonsyndromic hearing loss 8", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110527", "GARD:0022589", "MEDGEN:322046", "OMIM:601072", "UMLS:C1832827" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 8", "DFNB10", "DFNB8", "NRSD8", "autosomal recessive deafness 10", "autosomal recessive deafness 8", "autosomal recessive nonsyndromic deafness 8", "autosomal recessive nonsyndromic deafness type 8", "childhood-onset neurosensory autosomal recessive deafness 8", "deafness, autosomal recessive 10", "deafness, autosomal recessive 8", "deafness, autosomal recessive 8/10", "deafness, autosomal recessive type 8", "deafness, childhood-onset neurosensory, autosomal recessive 8", "neurosensory nonsyndromic recessive deafness 8" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22." }, "child_count": 0, "reference_id": "MONDO:0010987" }, { "id": 12193, "label": "autosomal recessive nonsyndromic hearing loss 12", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110467", "GARD:0022590", "MEDGEN:330455", "MESH:C563327", "OMIM:601386", "UMLS:C1832394" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 12", "DFNB12", "autosomal recessive deafness 12", "autosomal recessive nonsyndromic deafness 12", "autosomal recessive nonsyndromic deafness type 12", "deafness, autosomal recessive 12", "deafness, autosomal recessive 12, modifier of", "deafness, autosomal recessive type 12" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22." }, "child_count": 0, "reference_id": "MONDO:0011067" }, { "id": 12282, "label": "autosomal recessive nonsyndromic hearing loss 15", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110470", "GARD:0022591", "MEDGEN:355626", "MESH:C566611", "OMIM:601869", "UMLS:C1866094" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 15", "DFNB15", "DFNB72", "DFNB95", "GIPC3 autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 15", "autosomal recessive deafness 72", "autosomal recessive deafness 95", "autosomal recessive nonsyndromic deafness 15", "autosomal recessive nonsyndromic deafness caused by mutation in GIPC3", "autosomal recessive nonsyndromic deafness type 15", "deafness, autosomal recessive 15", "deafness, autosomal recessive 72", "deafness, autosomal recessive 95", "deafness, autosomal recessive type 15" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene." }, "child_count": 0, "reference_id": "MONDO:0011160" }, { "id": 12314, "label": "autosomal recessive nonsyndromic hearing loss 18A", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110473", "GARD:0022592", "MEDGEN:356389", "MESH:C566580", "OMIM:602092", "UMLS:C1865870" ], "synonyms": [ "DFNB18A", "USH1C autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 18A", "autosomal recessive nonsyndromic deafness 18A", "autosomal recessive nonsyndromic deafness caused by mutation in USH1C", "autosomal recessive nonsyndromic deafness type 18A", "deafness, autosomal recessive 18", "deafness, autosomal recessive 18A", "deafness, autosomal recessive 18a", "deafness, autosomal recessive type 18A" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene." }, "child_count": 0, "reference_id": "MONDO:0011192" }, { "id": 12397, "label": "autosomal recessive nonsyndromic hearing loss 17", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110472", "GARD:0022593", "MEDGEN:355180", "MESH:C566418", "OMIM:603010", "UMLS:C1864276" ], "synonyms": [ "DFNB17", "autosomal recessive deafness 17", "autosomal recessive nonsyndromic deafness 17", "autosomal recessive nonsyndromic deafness type 17", "deafness, autosomal recessive 17" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31." }, "child_count": 0, "reference_id": "MONDO:0011279" }, { "id": 12404, "label": "autosomal recessive nonsyndromic hearing loss 13", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110468", "GARD:0022594", "MEDGEN:350361", "MESH:C566410", "OMIM:603098", "UMLS:C1864199" ], "synonyms": [ "DFNB13", "autosomal recessive deafness 13", "autosomal recessive nonsyndromic deafness 13", "autosomal recessive nonsyndromic deafness type 13", "deafness, autosomal recessive 13" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36." }, "child_count": 0, "reference_id": "MONDO:0011286" }, { "id": 12461, "label": "autosomal recessive nonsyndromic hearing loss 21", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110479", "GARD:0022595", "MEDGEN:355030", "MESH:C566353", "OMIM:603629", "UMLS:C1863655" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 21", "DFNB21", "TECTA autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 21", "autosomal recessive nonsyndromic deafness 21", "autosomal recessive nonsyndromic deafness caused by mutation in TECTA", "autosomal recessive nonsyndromic deafness caused by mutation in tecta", "autosomal recessive nonsyndromic deafness type 21", "deafness, autosomal recessive 21", "deafness, autosomal recessive type 21", "tecta autosomal recessive nonsyndromic deafness" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene." }, "child_count": 0, "reference_id": "MONDO:0011351" }, { "id": 12470, "label": "autosomal recessive nonsyndromic hearing loss 14", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110469", "GARD:0022596", "MEDGEN:350931", "MESH:C566344", "OMIM:603678", "UMLS:C1863613" ], "synonyms": [ "DFNB14", "autosomal recessive deafness 14", "autosomal recessive nonsyndromic deafness 14", "autosomal recessive nonsyndromic deafness type 14", "deafness, autosomal recessive 14" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31." }, "child_count": 0, "reference_id": "MONDO:0011360" }, { "id": 12474, "label": "autosomal recessive nonsyndromic hearing loss 16", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110471", "GARD:0022597", "MEDGEN:350211", "MESH:C566339", "OMIM:603720", "UMLS:C1863561" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 16", "DFNB16", "STRC autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 16", "autosomal recessive nonsyndromic deafness 16", "autosomal recessive nonsyndromic deafness caused by mutation in STRC", "autosomal recessive nonsyndromic deafness type 16", "deafness, autosomal recessive 16", "deafness, autosomal recessive type 16" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene." }, "child_count": 0, "reference_id": "MONDO:0011364" }, { "id": 12498, "label": "autosomal recessive nonsyndromic hearing loss 20", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110478", "GARD:0022598", "MEDGEN:347005", "MESH:C565828", "OMIM:604060", "UMLS:C1858840" ], "synonyms": [ "DFNB20", "autosomal recessive deafness 20", "autosomal recessive nonsyndromic deafness 20", "autosomal recessive nonsyndromic deafness type 20", "deafness, autosomal recessive 20" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter." }, "child_count": 0, "reference_id": "MONDO:0011392" }, { "id": 12650, "label": "autosomal recessive nonsyndromic hearing loss 26", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110484", "GARD:0022599", "MEDGEN:340185", "MESH:C565329", "OMIM:605428", "UMLS:C1854275" ], "synonyms": [ "DFNB26", "autosomal recessive deafness 26", "autosomal recessive nonsyndromic deafness 26", "autosomal recessive nonsyndromic deafness type 26", "deafness, autosomal recessive 26" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31." }, "child_count": 0, "reference_id": "MONDO:0011553" }, { "id": 12698, "label": "autosomal recessive nonsyndromic hearing loss 27", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110485", "GARD:0022600", "MEDGEN:381303", "MESH:C565287", "OMIM:605818", "UMLS:C1853941" ], "synonyms": [ "DFNB27", "autosomal recessive deafness 27", "autosomal recessive nonsyndromic deafness 27", "autosomal recessive nonsyndromic deafness type 27", "deafness, autosomal recessive 27" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31." }, "child_count": 0, "reference_id": "MONDO:0011602" }, { "id": 12848, "label": "autosomal recessive nonsyndromic hearing loss 22", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110480", "GARD:0022601", "MEDGEN:339636", "MESH:C564633", "OMIM:607039", "UMLS:C1846896" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 22", "DFNB22", "OTOA autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 22", "autosomal recessive nonsyndromic deafness 22", "autosomal recessive nonsyndromic deafness caused by mutation in OTOA", "autosomal recessive nonsyndromic deafness type 22", "deafness, autosomal recessive 22", "deafness, autosomal recessive type 22" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene." }, "child_count": 0, "reference_id": "MONDO:0011762" }, { "id": 12852, "label": "autosomal recessive nonsyndromic hearing loss 31", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110490", "GARD:0022602", "MEDGEN:339621", "MESH:C564629", "OMIM:607084", "UMLS:C1846839" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 31", "DFNB31", "WHRN autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 31", "autosomal recessive nonsyndromic deafness 31", "autosomal recessive nonsyndromic deafness caused by mutation in WHRN", "autosomal recessive nonsyndromic deafness type 31", "deafness, autosomal recessive 31", "deafness, autosomal recessive type 31", "whirler, mouse, homolog of" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene." }, "child_count": 0, "reference_id": "MONDO:0011767" }, { "id": 12858, "label": "autosomal recessive nonsyndromic hearing loss 30", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110489", "GARD:0022603", "MEDGEN:335521", "MESH:C564624", "OMIM:607101", "UMLS:C1846784" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 30", "DFNB30", "MYO3A autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 30", "autosomal recessive nonsyndromic deafness 30", "autosomal recessive nonsyndromic deafness caused by mutation in MYO3A", "autosomal recessive nonsyndromic deafness type 30", "deafness, autosomal recessive 30", "deafness, autosomal recessive type 30" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene." }, "child_count": 0, "reference_id": "MONDO:0011774" }, { "id": 12881, "label": "autosomal recessive nonsyndromic hearing loss 33", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110492", "GARD:0022604", "MEDGEN:335464", "MESH:C564602", "OMIM:607239", "UMLS:C1846576" ], "synonyms": [ "DFNB33", "autosomal recessive deafness 33", "autosomal recessive nonsyndromic deafness 33", "autosomal recessive nonsyndromic deafness type 33", "deafness, autosomal recessive 33" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1." }, "child_count": 0, "reference_id": "MONDO:0011799" }, { "id": 12986, "label": "autosomal recessive nonsyndromic hearing loss 37", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110495", "GARD:0022605", "MEDGEN:375076", "MESH:C564331", "OMIM:607821", "UMLS:C1843028" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 37", "DFNB37", "MYO6 autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 37", "autosomal recessive nonsyndromic deafness 37", "autosomal recessive nonsyndromic deafness caused by mutation in MYO6", "autosomal recessive nonsyndromic deafness type 37", "deafness, autosomal recessive 37", "deafness, autosomal recessive type 37" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene." }, "child_count": 0, "reference_id": "MONDO:0011912" }, { "id": 13062, "label": "autosomal recessive nonsyndromic hearing loss 38", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110496", "GARD:0022606", "MEDGEN:330838", "MESH:C564273", "OMIM:608219", "UMLS:C1842381" ], "synonyms": [ "DFNB38", "autosomal recessive deafness 38", "autosomal recessive nonsyndromic deafness 38", "autosomal recessive nonsyndromic deafness type 38", "deafness, autosomal recessive 38" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27." }, "child_count": 0, "reference_id": "MONDO:0011991" }, { "id": 13073, "label": "autosomal recessive nonsyndromic hearing loss 40", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110499", "GARD:0022607", "MEDGEN:334053", "MESH:C564266", "OMIM:608264", "UMLS:C1842345" ], "synonyms": [ "DFNB40", "autosomal recessive deafness 40", "autosomal recessive nonsyndromic deafness 40", "autosomal recessive nonsyndromic deafness type 40", "deafness, autosomal recessive 40" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1." }, "child_count": 0, "reference_id": "MONDO:0012002" }, { "id": 13074, "label": "autosomal recessive nonsyndromic hearing loss 39", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110497", "GARD:0022608", "MEDGEN:374909", "MESH:C564265", "NCIT:C129874", "OMIM:608265", "UMLS:C1842342" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 39", "DFNB39", "HGF autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 39", "autosomal recessive nonsyndromic deafness 39", "autosomal recessive nonsyndromic deafness caused by mutation in HGF", "autosomal recessive nonsyndromic deafness type 39", "deafness, autosomal recessive 39", "deafness, autosomal recessive type 39" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness." }, "child_count": 0, "reference_id": "MONDO:0012003" }, { "id": 13128, "label": "autosomal recessive nonsyndromic hearing loss 35", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110493", "GARD:0022609", "MEDGEN:324897", "MESH:C563908", "OMIM:608565", "UMLS:C1837857" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 35", "DFNB35", "ESRRB autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 35", "autosomal recessive nonsyndromic deafness 35", "autosomal recessive nonsyndromic deafness caused by mutation in ESRRB", "autosomal recessive nonsyndromic deafness type 35", "deafness, autosomal recessive 35", "deafness, autosomal recessive type 35" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene." }, "child_count": 0, "reference_id": "MONDO:0012060" }, { "id": 13157, "label": "autosomal recessive nonsyndromic hearing loss 32", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110466", "DOID:0110491", "GARD:0022610", "MEDGEN:373370", "MESH:C563884", "OMIM:608653", "UMLS:C1837608" ], "synonyms": [ "CDC14A autosomal recessive nonsyndromic deafness", "DFNB105", "DFNB32", "autosomal recessive deafness 105", "autosomal recessive deafness 32", "autosomal recessive nonsyndromic deafness 105", "autosomal recessive nonsyndromic deafness 32", "autosomal recessive nonsyndromic deafness caused by mutation in CDC14A", "autosomal recessive nonsyndromic deafness type 105", "autosomal recessive nonsyndromic deafness type 32", "deafness, autosomal recessive 105", "deafness, autosomal recessive 32", "deafness, autosomal recessive 32, with or without immotile sperm", "deafness, autosomal recessive type 105" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3." }, "child_count": 0, "reference_id": "MONDO:0012091" }, { "id": 13233, "label": "autosomal recessive nonsyndromic hearing loss 36", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110494", "GARD:0022611", "MEDGEN:324662", "MESH:C563815", "OMIM:609006", "UMLS:C1837007" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 36", "deafness, neurosensory, without vestibular involvement, autosomal dominant", "DFNB36", "ESPN autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 36", "autosomal recessive nonsyndromic deafness 36", "autosomal recessive nonsyndromic deafness caused by mutation in ESPN", "autosomal recessive nonsyndromic deafness type 36", "deafness, autosomal dominant, without vestibular involvement", "deafness, autosomal recessive 36", "deafness, autosomal recessive 36, with or without vestibular involvement" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene." }, "child_count": 0, "reference_id": "MONDO:0012170" }, { "id": 13332, "label": "autosomal recessive nonsyndromic hearing loss 48", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110505", "DOID:0110836", "GARD:0015863", "GARD:0022612", "MEDGEN:332149", "MEDGEN:766858", "MESH:C563720", "OMIM:609439", "OMIM:614869", "UMLS:C1836199", "UMLS:C3553944" ], "synonyms": [ "USH1J", "Usher syndrome type 1J", "autosomal recessive nonsyndromic hearing loss 48", "CIB2 autosomal recessive nonsyndromic deafness", "DFNB48", "autosomal recessive nonsyndromic deafness caused by mutation in CIB2", "autosomal recessive nonsyndromic deafness type 48", "deafness, autosomal recessive 48", "deafness, autosomal recessive type 48" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene." }, "child_count": 0, "reference_id": "MONDO:0012273" }, { "id": 13350, "label": "autosomal recessive nonsyndromic hearing loss 23", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110481", "GARD:0022613", "MEDGEN:332110", "MESH:C563705", "OMIM:609533", "UMLS:C1836027" ], "synonyms": [ "DFNB23", "PCDH15 autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 23", "autosomal recessive nonsyndromic deafness 23", "autosomal recessive nonsyndromic deafness caused by mutation in PCDH15", "autosomal recessive nonsyndromic deafness type 23", "deafness, autosomal recessive 23", "deafness, autosomal recessive type 23" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene." }, "child_count": 0, "reference_id": "MONDO:0012293" }, { "id": 13382, "label": "autosomal recessive nonsyndromic hearing loss 42", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110500", "GARD:0022614", "MEDGEN:351225", "MESH:C566460", "OMIM:609646", "UMLS:C1864818" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 42", "DFNB42", "ILDR1 autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 42", "autosomal recessive nonsyndromic deafness 42", "autosomal recessive nonsyndromic deafness caused by mutation in ILDR1", "autosomal recessive nonsyndromic deafness type 42", "deafness, autosomal recessive 42", "deafness, autosomal recessive type 42" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene." }, "child_count": 0, "reference_id": "MONDO:0012326" }, { "id": 13383, "label": "autosomal recessive nonsyndromic hearing loss 46", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110503", "GARD:0022615", "MEDGEN:355302", "MESH:C566459", "OMIM:609647", "UMLS:C1864815" ], "synonyms": [ "DFNB46", "autosomal recessive deafness 46", "autosomal recessive nonsyndromic deafness 46", "autosomal recessive nonsyndromic deafness type 46", "deafness, autosomal recessive 46" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31." }, "child_count": 0, "reference_id": "MONDO:0012327" }, { "id": 13388, "label": "autosomal recessive nonsyndromic hearing loss 53", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110509", "GARD:0022616", "MEDGEN:400602", "MESH:C566453", "OMIM:609706", "UMLS:C1864746" ], "synonyms": [ "COL11A2 autosomal recessive nonsyndromic deafness", "DFNB53", "autosomal recessive deafness 53", "autosomal recessive nonsyndromic deafness 53", "autosomal recessive nonsyndromic deafness caused by mutation in COL11A2", "autosomal recessive nonsyndromic deafness type 53", "deafness, autosomal recessive 53", "deafness, autosomal recessive type 53" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene." }, "child_count": 0, "reference_id": "MONDO:0012333" }, { "id": 13409, "label": "autosomal recessive nonsyndromic hearing loss 28", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110486", "GARD:0022617", "MEDGEN:342839", "MESH:C565218", "NCIT:C129023", "OMIM:609823", "UMLS:C1853276" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 28", "DFNB28", "TRIOBP autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 28", "autosomal recessive nonsyndromic deafness 28", "autosomal recessive nonsyndromic deafness caused by mutation in TRIOBP", "autosomal recessive nonsyndromic deafness type 28", "deafness, autosomal recessive 28", "deafness, autosomal recessive type 28" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss." }, "child_count": 0, "reference_id": "MONDO:0012355" }, { "id": 13422, "label": "autosomal recessive nonsyndromic hearing loss 51", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110508", "GARD:0009918", "MEDGEN:355880", "MESH:C538202", "OMIM:609941", "UMLS:C1864968" ], "synonyms": [ "DFNB51", "autosomal recessive deafness 51", "autosomal recessive nonsyndromic deafness 51", "autosomal recessive nonsyndromic deafness type 51", "deafness, autosomal recessive 51" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12." }, "child_count": 0, "reference_id": "MONDO:0012370" }, { "id": 13426, "label": "autosomal recessive nonsyndromic hearing loss 47", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110504", "GARD:0009935", "MEDGEN:355339", "MESH:C566498", "OMIM:609946", "UMLS:C1864964" ], "synonyms": [ "deafness, neurosensory, autosomal recessive 47", "DFNB47", "autosomal recessive deafness 47", "autosomal recessive nonsyndromic deafness 47", "autosomal recessive nonsyndromic deafness type 47", "deafness, autosomal recessive 47" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3." }, "child_count": 0, "reference_id": "MONDO:0012375" }, { "id": 13427, "label": "autosomal recessive nonsyndromic hearing loss 55", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110510", "GARD:0009919", "MEDGEN:355338", "MESH:C538203", "OMIM:609952", "UMLS:C1864962" ], "synonyms": [ "DFNB55", "autosomal recessive deafness 55", "autosomal recessive nonsyndromic deafness 55", "autosomal recessive nonsyndromic deafness type 55", "deafness, autosomal recessive 55" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2." }, "child_count": 0, "reference_id": "MONDO:0012376" }, { "id": 13469, "label": "autosomal recessive nonsyndromic hearing loss 62", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110514", "GARD:0022618", "MEDGEN:387916", "MESH:C565719", "OMIM:610143", "UMLS:C1857820" ], "synonyms": [ "DFNB62", "autosomal recessive deafness 62", "autosomal recessive nonsyndromic deafness 62", "autosomal recessive nonsyndromic deafness type 62", "deafness, autosomal recessive 62" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23." }, "child_count": 0, "reference_id": "MONDO:0012418" }, { "id": 13471, "label": "autosomal recessive nonsyndromic hearing loss 49", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110506", "GARD:0022619", "MEDGEN:346670", "MESH:C565717", "NCIT:C129024", "OMIM:610153", "UMLS:C1857811" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 49", "DFNB49", "MARVELD2 autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 49", "autosomal recessive nonsyndromic deafness 49", "autosomal recessive nonsyndromic deafness caused by mutation in MARVELD2", "autosomal recessive nonsyndromic deafness type 49", "deafness, autosomal recessive 49", "deafness, autosomal recessive type 49" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness." }, "child_count": 0, "reference_id": "MONDO:0012420" }, { "id": 13472, "label": "autosomal recessive nonsyndromic hearing loss 44", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110501", "GARD:0022620", "MEDGEN:341854", "MESH:C565716", "OMIM:610154", "UMLS:C1857809" ], "synonyms": [ "ADCY1 autosomal recessive nonsyndromic deafness", "DFNB44", "autosomal recessive deafness 44", "autosomal recessive nonsyndromic deafness 44", "autosomal recessive nonsyndromic deafness caused by mutation in ADCY1", "autosomal recessive nonsyndromic deafness type 44", "deafness, autosomal recessive 44", "deafness, autosomal recessive type 44" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene." }, "child_count": 0, "reference_id": "MONDO:0012421" }, { "id": 13492, "label": "autosomal recessive nonsyndromic hearing loss 66", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110517", "GARD:0022621", "MEDGEN:346659", "MESH:C565701", "OMIM:610212", "UMLS:C1857750" ], "synonyms": [ "DCDC2 autosomal recessive nonsyndromic deafness", "DFNB66", "autosomal recessive deafness 66", "autosomal recessive nonsyndromic deafness 66", "autosomal recessive nonsyndromic deafness caused by mutation in DCDC2", "autosomal recessive nonsyndromic deafness type 66", "deafness, autosomal recessive 66", "deafness, autosomal recessive type 66" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene." }, "child_count": 0, "reference_id": "MONDO:0012442" }, { "id": 13495, "label": "autosomal recessive nonsyndromic hearing loss 59", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110511", "GARD:0022622", "MEDGEN:387899", "MESH:C565698", "OMIM:610220", "UMLS:C1857744" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 59", "DFNB59", "PJVK autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 59", "autosomal recessive nonsyndromic deafness 59", "autosomal recessive nonsyndromic deafness caused by mutation in PJVK", "autosomal recessive nonsyndromic deafness type 59", "deafness, autosomal recessive 59", "deafness, autosomal recessive type 59" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene." }, "child_count": 0, "reference_id": "MONDO:0012445" }, { "id": 13502, "label": "autosomal recessive nonsyndromic hearing loss 65", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110516", "GARD:0022623", "MEDGEN:344004", "MESH:C565211", "OMIM:610248", "UMLS:C1853248" ], "synonyms": [ "DFNB65", "autosomal recessive deafness 65", "autosomal recessive nonsyndromic deafness 65", "autosomal recessive nonsyndromic deafness type 65", "deafness, autosomal recessive 65" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3." }, "child_count": 0, "reference_id": "MONDO:0012452" }, { "id": 13510, "label": "autosomal recessive nonsyndromic hearing loss 67", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110518", "GARD:0022624", "MEDGEN:343997", "MESH:C565207", "OMIM:610265", "UMLS:C1853223" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 67", "DFNB67", "LHFPL5 autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 67", "autosomal recessive nonsyndromic deafness 67", "autosomal recessive nonsyndromic deafness caused by mutation in LHFPL5", "autosomal recessive nonsyndromic deafness type 67", "deafness, autosomal recessive 67", "deafness, autosomal recessive type 67" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene." }, "child_count": 0, "reference_id": "MONDO:0012460" }, { "id": 13534, "label": "autosomal recessive nonsyndromic hearing loss 68", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110519", "GARD:0022625", "MEDGEN:324374", "MESH:C563669", "OMIM:610419", "UMLS:C1835854" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 68", "DFNB68", "S1PR2 autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 68", "autosomal recessive nonsyndromic deafness 68", "autosomal recessive nonsyndromic deafness caused by mutation in S1PR2", "autosomal recessive nonsyndromic deafness type 68", "deafness, autosomal recessive 68" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene." }, "child_count": 0, "reference_id": "MONDO:0012485" }, { "id": 13649, "label": "autosomal recessive nonsyndromic hearing loss 24", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110482", "GARD:0022626", "MEDGEN:370208", "MESH:C567027", "OMIM:611022", "UMLS:C1970239" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 24", "DFNB24", "RDX autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 24", "autosomal recessive nonsyndromic deafness 24", "autosomal recessive nonsyndromic deafness caused by mutation in RDX", "autosomal recessive nonsyndromic deafness type 24", "deafness, autosomal recessive 24", "deafness, autosomal recessive type 24" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene." }, "child_count": 0, "reference_id": "MONDO:0012602" }, { "id": 13710, "label": "autosomal recessive nonsyndromic hearing loss 63", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110515", "GARD:0022627", "MEDGEN:409872", "MESH:C566951", "OMIM:611451", "UMLS:C1969621" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 63", "DFNB63", "LRTOMT autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 63", "autosomal recessive nonsyndromic deafness 63", "autosomal recessive nonsyndromic deafness caused by mutation in LRTOMT", "autosomal recessive nonsyndromic deafness type 63", "deafness, autosomal recessive 63", "deafness, autosomal recessive type 63" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene." }, "child_count": 0, "reference_id": "MONDO:0012670" }, { "id": 13943, "label": "autosomal recessive nonsyndromic hearing loss 45", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110502", "GARD:0022628", "MEDGEN:854732", "OMIM:612433", "UMLS:C3888030" ], "synonyms": [ "DFNB45", "autosomal recessive deafness 45", "autosomal recessive nonsyndromic deafness 45", "autosomal recessive nonsyndromic deafness type 45", "deafness, autosomal recessive 45" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44." }, "child_count": 0, "reference_id": "MONDO:0012903" }, { "id": 14017, "label": "autosomal recessive nonsyndromic hearing loss 1B", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110476", "GARD:0022629", "GTR:AN1075764", "MEDGEN:436381", "MESH:C567213", "OMIM:612645", "UMLS:C2675235" ], "synonyms": [ "Autosomal recessive deafness type 1B", "DFNB1B", "GJB6 autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 1B", "autosomal recessive nonsyndromic deafness 1B", "autosomal recessive nonsyndromic deafness caused by mutation in GJB6", "autosomal recessive nonsyndromic deafness type 1B", "deafness, autosomal recessive 1B", "deafness, autosomal recessive 1b", "deafness, autosomal recessive type 1B" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene." }, "child_count": 0, "reference_id": "MONDO:0012977" }, { "id": 14049, "label": "autosomal recessive nonsyndromic hearing loss 71", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110522", "GARD:0022630", "MEDGEN:411609", "MESH:C567562", "OMIM:612789", "UMLS:C2748554" ], "synonyms": [ "DFNB71", "autosomal recessive deafness 71", "autosomal recessive nonsyndromic deafness 71", "autosomal recessive nonsyndromic deafness type 71", "deafness, autosomal recessive 71" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3." }, "child_count": 0, "reference_id": "MONDO:0013010" }, { "id": 14157, "label": "autosomal recessive nonsyndromic hearing loss 77", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110525", "GARD:0022631", "MEDGEN:412541", "MESH:C567543", "OMIM:613079", "UMLS:C2746083" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 77", "DFNB77", "LOXHD1 autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 77", "autosomal recessive nonsyndromic deafness 77", "autosomal recessive nonsyndromic deafness caused by mutation in LOXHD1", "autosomal recessive nonsyndromic deafness type 77", "deafness, autosomal recessive 77", "deafness, autosomal recessive type 77" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene." }, "child_count": 0, "reference_id": "MONDO:0013119" }, { "id": 14246, "label": "autosomal recessive nonsyndromic hearing loss 25", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110483", "GARD:0022632", "MEDGEN:237587", "OMIM:613285", "UMLS:C1414017" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 25", "DFNB25", "GRXCR1 autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 25", "autosomal recessive nonsyndromic deafness 25", "autosomal recessive nonsyndromic deafness caused by mutation in GRXCR1", "autosomal recessive nonsyndromic deafness type 25", "deafness, autosomal recessive 25", "deafness, autosomal recessive type 25" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene." }, "child_count": 0, "reference_id": "MONDO:0013210" }, { "id": 14251, "label": "autosomal recessive nonsyndromic hearing loss 79", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110526", "GARD:0022633", "MEDGEN:413222", "MESH:C567651", "OMIM:613307", "UMLS:C2750082" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 79", "DFNB79", "TPRN autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 79", "autosomal recessive nonsyndromic deafness 79", "autosomal recessive nonsyndromic deafness caused by mutation in TPRN", "autosomal recessive nonsyndromic deafness type 79", "deafness, autosomal recessive 79", "deafness, autosomal recessive type 79" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene." }, "child_count": 0, "reference_id": "MONDO:0013215" }, { "id": 14285, "label": "autosomal recessive nonsyndromic hearing loss 84A", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110529", "GARD:0022634", "MEDGEN:462004", "OMIM:613391", "UMLS:C3150654" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 84A", "DFNB84A", "PTPRQ autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 84A", "autosomal recessive deafness 84A with vestibular dysfunction", "autosomal recessive nonsyndromic deafness 84A", "autosomal recessive nonsyndromic deafness caused by mutation in PTPRQ", "autosomal recessive nonsyndromic deafness type 84A", "deafness, autosomal recessive 84", "deafness, autosomal recessive 84A", "deafness, autosomal recessive 84A, with vestibular dysfunction", "deafness, autosomal recessive 84a", "deafness, autosomal recessive type 84A" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene." }, "child_count": 0, "reference_id": "MONDO:0013249" }, { "id": 14286, "label": "autosomal recessive nonsyndromic hearing loss 85", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110531", "GARD:0022635", "MEDGEN:463629", "OMIM:613392", "UMLS:C3160740" ], "synonyms": [ "DFNB85", "autosomal recessive deafness 85", "autosomal recessive nonsyndromic deafness 85", "autosomal recessive nonsyndromic deafness type 85", "deafness, autosomal recessive 85" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2." }, "child_count": 0, "reference_id": "MONDO:0013250" }, { "id": 14305, "label": "autosomal recessive nonsyndromic hearing loss 91", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110536", "GARD:0022636", "MEDGEN:462054", "OMIM:613453", "UMLS:C3150704" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 91", "DFNB91", "SERPINB6 autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 91", "autosomal recessive nonsyndromic deafness 91", "autosomal recessive nonsyndromic deafness caused by mutation in SERPINB6", "autosomal recessive nonsyndromic deafness type 91", "deafness, autosomal recessive 91", "deafness, autosomal recessive type 91" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene." }, "child_count": 0, "reference_id": "MONDO:0013269" }, { "id": 14398, "label": "autosomal recessive nonsyndromic hearing loss 83", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110528", "GARD:0022637", "MEDGEN:854856", "OMIM:613685", "UMLS:C3888310" ], "synonyms": [ "DFNB83", "autosomal recessive deafness 83", "autosomal recessive nonsyndromic deafness 83", "autosomal recessive nonsyndromic deafness type 83", "deafness, autosomal recessive 83" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2." }, "child_count": 0, "reference_id": "MONDO:0013365" }, { "id": 14419, "label": "autosomal recessive nonsyndromic hearing loss 74", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110523", "GARD:0022638", "MEDGEN:453237", "OMIM:613718", "UMLS:C2239351" ], "synonyms": [ "DFNB74", "MSRB3 autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 74", "autosomal recessive nonsyndromic deafness 74", "autosomal recessive nonsyndromic deafness caused by mutation in MSRB3", "autosomal recessive nonsyndromic deafness type 74", "deafness, autosomal recessive 74", "deafness, autosomal recessive type 74" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene." }, "child_count": 0, "reference_id": "MONDO:0013386" }, { "id": 14502, "label": "autosomal recessive nonsyndromic hearing loss 61", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110513", "GARD:0022639", "MEDGEN:462580", "OMIM:613865", "UMLS:C3151230" ], "synonyms": [ "DFNB61", "SLC26A5 autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 61", "autosomal recessive nonsyndromic deafness 61", "autosomal recessive nonsyndromic deafness caused by mutation in SLC26A5", "autosomal recessive nonsyndromic deafness type 61", "deafness, autosomal recessive 61", "deafness, autosomal recessive type 61" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene." }, "child_count": 0, "reference_id": "MONDO:0013471" }, { "id": 14520, "label": "autosomal recessive nonsyndromic hearing loss 89", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110534", "GARD:0022640", "MEDGEN:462701", "OMIM:613916", "UMLS:C3151351" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 89", "DFNB89", "KARS autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 89", "autosomal recessive nonsyndromic deafness 89", "autosomal recessive nonsyndromic deafness caused by mutation in KARS", "autosomal recessive nonsyndromic deafness type 89", "deafness, autosomal recessive 89", "deafness, autosomal recessive type 89" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene." }, "child_count": 0, "reference_id": "MONDO:0013489" }, { "id": 14566, "label": "autosomal recessive nonsyndromic hearing loss 29", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110487", "GARD:0022641", "MEDGEN:481290", "OMIM:614035", "UMLS:C3279660" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 29", "CLDN14 autosomal recessive nonsyndromic deafness", "DFNB29", "autosomal recessive deafness 29", "autosomal recessive nonsyndromic deafness 29", "autosomal recessive nonsyndromic deafness caused by mutation in CLDN14", "autosomal recessive nonsyndromic deafness type 29", "deafness, autosomal recessive 29", "deafness, autosomal recessive type 29" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene." }, "child_count": 0, "reference_id": "MONDO:0013537" }, { "id": 14757, "label": "autosomal recessive nonsyndromic hearing loss 96", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110538", "GARD:0022642", "MEDGEN:854865", "OMIM:614414", "UMLS:C3888337" ], "synonyms": [ "DFNB96", "autosomal recessive deafness 96", "autosomal recessive nonsyndromic deafness 96", "autosomal recessive nonsyndromic deafness type 96", "deafness, autosomal recessive 96" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13." }, "child_count": 0, "reference_id": "MONDO:0013738" }, { "id": 14840, "label": "autosomal recessive nonsyndromic hearing loss 86", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110532", "GARD:0022643", "MEDGEN:760543", "OMIM:614617", "UMLS:C2829265" ], "synonyms": [ "DFNB86", "TBC1D24 autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 86", "autosomal recessive nonsyndromic deafness 86", "autosomal recessive nonsyndromic deafness caused by mutation in TBC1D24", "autosomal recessive nonsyndromic deafness type 86", "deafness, autosomal recessive 86", "deafness, autosomal recessive type 86" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." }, "child_count": 0, "reference_id": "MONDO:0013826" }, { "id": 14941, "label": "autosomal recessive nonsyndromic hearing loss 98", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110540", "GARD:0022644", "MEDGEN:766846", "OMIM:614861", "UMLS:C3553932" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 98", "DFNB98", "TSPEAR autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 98", "autosomal recessive nonsyndromic deafness 98", "autosomal recessive nonsyndromic deafness caused by mutation in TSPEAR", "autosomal recessive nonsyndromic deafness type 98", "deafness, autosomal recessive 98", "deafness, autosomal recessive type 98" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene." }, "child_count": 0, "reference_id": "MONDO:0013929" }, { "id": 14973, "label": "autosomal recessive nonsyndromic hearing loss 93", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110537", "GARD:0022645", "MEDGEN:854875", "OMIM:614899", "UMLS:C3888355" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 93", "CABP2 autosomal recessive nonsyndromic deafness", "DFNB93", "autosomal recessive deafness 93", "autosomal recessive nonsyndromic deafness 93", "autosomal recessive nonsyndromic deafness caused by mutation in CABP2", "autosomal recessive nonsyndromic deafness type 93", "deafness, autosomal recessive 93", "deafness, autosomal recessive type 93" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene." }, "child_count": 0, "reference_id": "MONDO:0013963" }, { "id": 14988, "label": "autosomal recessive nonsyndromic hearing loss 70", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110521", "GARD:0022646", "MEDGEN:760477", "OMIM:614934", "UMLS:C1824925" ], "synonyms": [ "DFNB70", "PNPT1 autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 70", "autosomal recessive nonsyndromic deafness 70", "autosomal recessive nonsyndromic deafness caused by mutation in PNPT1", "autosomal recessive nonsyndromic deafness type 70", "deafness, autosomal recessive 70", "deafness, autosomal recessive type 70" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene." }, "child_count": 0, "reference_id": "MONDO:0013978" }, { "id": 14994, "label": "autosomal recessive nonsyndromic hearing loss 84B", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110530", "GARD:0022647", "MEDGEN:767073", "OMIM:614944", "UMLS:C3554159" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 84B", "DFNB84B", "OTOGL autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 84B", "autosomal recessive nonsyndromic deafness 84B", "autosomal recessive nonsyndromic deafness caused by mutation in OTOGL", "autosomal recessive nonsyndromic deafness type 84B", "deafness, autosomal recessive 84B", "deafness, autosomal recessive 84b", "deafness, autosomal recessive type 84B" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene." }, "child_count": 0, "reference_id": "MONDO:0013984" }, { "id": 14995, "label": "autosomal recessive nonsyndromic hearing loss 18B", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110474", "GARD:0022648", "MEDGEN:767077", "OMIM:614945", "UMLS:C3554163" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 18B", "DFNB18B", "OTOG autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 18B", "autosomal recessive nonsyndromic deafness 18B", "autosomal recessive nonsyndromic deafness caused by mutation in OTOG", "autosomal recessive nonsyndromic deafness type 18B", "deafness, autosomal recessive 18B", "deafness, autosomal recessive 18b", "deafness, autosomal recessive type 18B" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene." }, "child_count": 0, "reference_id": "MONDO:0013985" }, { "id": 15189, "label": "autosomal recessive nonsyndromic hearing loss 88", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110533", "GARD:0022649", "MEDGEN:811084", "OMIM:615429", "UMLS:C2829267" ], "synonyms": [ "DFNB88", "ELMOD3 autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 88", "autosomal recessive nonsyndromic deafness 88", "autosomal recessive nonsyndromic deafness caused by mutation in ELMOD3", "autosomal recessive nonsyndromic deafness type 88", "deafness, autosomal recessive 88", "deafness, autosomal recessive type 88" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene." }, "child_count": 0, "reference_id": "MONDO:0014182" }, { "id": 15243, "label": "autosomal recessive nonsyndromic hearing loss 76", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110524", "GARD:0022650", "MEDGEN:811137", "OMIM:615540", "UMLS:C3147083" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 76", "DFNB76", "SYNE4 autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 76", "autosomal recessive nonsyndromic deafness 76", "autosomal recessive nonsyndromic deafness caused by mutation in SYNE4", "autosomal recessive nonsyndromic deafness type 76", "deafness, autosomal recessive 76", "deafness, autosomal recessive type 76" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene." }, "child_count": 0, "reference_id": "MONDO:0014237" }, { "id": 15365, "label": "autosomal recessive nonsyndromic hearing loss 101", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110462", "GARD:0022651", "MEDGEN:856148", "OMIM:615837", "UMLS:C3892049" ], "synonyms": [ "DFNB101", "GRXCR2 autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 101", "autosomal recessive nonsyndromic deafness 101", "autosomal recessive nonsyndromic deafness caused by mutation in GRXCR2", "autosomal recessive nonsyndromic deafness type 101", "deafness, autosomal recessive 101", "deafness, autosomal recessive type 101" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene." }, "child_count": 0, "reference_id": "MONDO:0014363" }, { "id": 15428, "label": "autosomal recessive nonsyndromic hearing loss 102", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110463", "GARD:0022652", "MEDGEN:856149", "OMIM:615974", "UMLS:C3892050" ], "synonyms": [ "autosomal recessive nonsyndromic hearing loss 102", "DFNB102", "EPS8 autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 102", "autosomal recessive nonsyndromic deafness 102", "autosomal recessive nonsyndromic deafness caused by mutation in EPS8", "autosomal recessive nonsyndromic deafness type 102", "deafness, autosomal recessive 102", "deafness, autosomal recessive type 102" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene." }, "child_count": 0, "reference_id": "MONDO:0014428" }, { "id": 15468, "label": "autosomal recessive nonsyndromic hearing loss 103", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110464", "GARD:0022653", "MEDGEN:863487", "OMIM:616042", "UMLS:C4015050" ], "synonyms": [ "CLIC5 autosomal recessive nonsyndromic deafness", "DFNB103", "autosomal recessive deafness 103", "autosomal recessive nonsyndromic deafness 103", "autosomal recessive nonsyndromic deafness caused by mutation in CLIC5", "autosomal recessive nonsyndromic deafness type 103", "deafness, autosomal recessive 103", "deafness, autosomal recessive type 103" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene." }, "child_count": 0, "reference_id": "MONDO:0014469" }, { "id": 15670, "label": "autosomal recessive nonsyndromic hearing loss 104", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110465", "GARD:0022654", "MEDGEN:899775", "OMIM:616515", "UMLS:C4225298" ], "synonyms": [ "DFNB104", "RIPOR2 autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 104", "autosomal recessive nonsyndromic deafness 104", "autosomal recessive nonsyndromic deafness caused by mutation in RIPOR2", "autosomal recessive nonsyndromic deafness type 104", "deafness, autosomal recessive 104", "deafness, autosomal recessive type 104" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene." }, "child_count": 0, "reference_id": "MONDO:0014675" }, { "id": 15731, "label": "autosomal recessive nonsyndromic hearing loss 97", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110539", "GARD:0022655", "MEDGEN:899875", "OMIM:616705", "UMLS:C4084709" ], "synonyms": [ "DFNB97", "MET autosomal recessive nonsyndromic deafness", "autosomal recessive deafness 97", "autosomal recessive nonsyndromic deafness 97", "autosomal recessive nonsyndromic deafness caused by mutation in MET", "autosomal recessive nonsyndromic deafness type 97", "deafness, autosomal recessive 97", "deafness, autosomal recessive type 97" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene." }, "child_count": 0, "reference_id": "MONDO:0014739" }, { "id": 21785, "label": "hearing loss, autosomal recessive 111", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111640", "GARD:0022659", "MEDGEN:1648423", "OMIM:618145", "UMLS:C4748374" ], "synonyms": [ "DFNB111", "deafness, autosomal recessive 111" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0029142" }, { "id": 21922, "label": "hearing loss, autosomal recessive 118, with cochlear aplasia", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025563", "MEDGEN:1794206", "OMIM:619553", "UMLS:C5561996" ], "synonyms": [ "DFNB118", "deafness, autosomal recessive 118, with cochlear aplasia" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030449" }, { "id": 21938, "label": "hearing loss, autosomal recessive 119", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025576", "MEDGEN:1794233", "OMIM:619615", "UMLS:C5562023" ], "synonyms": [ "DFNB119", "deafness, autosomal recessive 119" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030480" }, { "id": 22110, "label": "hearing loss, autosomal recessive 117", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022665", "MEDGEN:1747842", "OMIM:619174", "UMLS:C5436937" ], "synonyms": [ "DFNB117", "deafness, autosomal recessive 117" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030905" }, { "id": 22322, "label": "hearing loss, autosomal recessive 112", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111637", "GARD:0018377", "MEDGEN:1648378", "OMIM:618257", "UMLS:C4748855" ], "synonyms": [ "DFNB112", "deafness, autosomal recessive 112" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032639" }, { "id": 22393, "label": "hearing loss, autosomal recessive 113", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111636", "GARD:0018152", "MEDGEN:1674289", "OMIM:618410", "UMLS:C5193079" ], "synonyms": [ "DFNB113", "deafness, autosomal recessive 113" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032732" }, { "id": 22400, "label": "hearing loss, autosomal recessive 100", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111638", "GARD:0022660", "MEDGEN:1682525", "OMIM:618422", "UMLS:C5193087" ], "synonyms": [ "DFNB100", "deafness, autosomal recessive 100" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032740" }, { "id": 22408, "label": "hearing loss, autosomal recessive 94", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111641", "GARD:0022661", "MEDGEN:1679077", "OMIM:618434", "UMLS:C5193096" ], "synonyms": [ "DFNB94", "deafness, autosomal recessive 94" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032749" }, { "id": 22419, "label": "hearing loss, autosomal recessive 114", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111642", "GARD:0022662", "MEDGEN:1684024", "OMIM:618456", "UMLS:C5193107" ], "synonyms": [ "DFNB114", "deafness, autosomal recessive 114" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032761" }, { "id": 22420, "label": "hearing loss, autosomal recessive 115", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111643", "GARD:0025736", "MEDGEN:1681630", "OMIM:618457", "UMLS:C5193108" ], "synonyms": [ "DFNB115", "deafness, autosomal recessive 115" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032762" }, { "id": 22433, "label": "hearing loss, autosomal recessive 99", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111634", "GARD:0022663", "MEDGEN:1678930", "OMIM:618481", "UMLS:C4760579" ], "synonyms": [ "DFNB99", "deafness, autosomal recessive 99" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032776" }, { "id": 22620, "label": "hearing loss, autosomal recessive 106", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080261", "GARD:0022656", "MEDGEN:1627111", "OMIM:617637", "UMLS:C4539954" ], "synonyms": [ "DFNB106", "autosomal recessive nonsyndromic deafness 106", "deafness autosomal recessive 106", "deafness, autosomal recessive 106" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033198" }, { "id": 22621, "label": "hearing loss, autosomal recessive 107", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080262", "GARD:0022657", "MEDGEN:1622558", "OMIM:617639", "UMLS:C4539964" ], "synonyms": [ "DFNB107", "autosomal recessive nonsyndromic deafness 107", "deafness, autosomal recessive 107" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033199" }, { "id": 22622, "label": "hearing loss, autosomal recessive 108", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080263", "GARD:0022658", "MEDGEN:1627841", "OMIM:617654", "UMLS:C4539997" ], "synonyms": [ "DFNB108", "autosomal recessive nonsyndromic deafness 108", "deafness, autosomal recessive 108" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033200" }, { "id": 22623, "label": "hearing loss, autosomal recessive 57", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111635", "GARD:0025788", "MEDGEN:1631180", "OMIM:618003", "UMLS:C4693893" ], "synonyms": [ "hearing loss, autosomal recessive 57", "DFNB57", "deafness, autosomal recessive 57" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033201" }, { "id": 22624, "label": "hearing loss, autosomal recessive 109", "isLeaf": true, "isRoot": false, "parents": [ 19393 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111639", "GARD:0025789", "MEDGEN:1633308", 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