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{
"identifier": "Deafness, autosomal dominant, 88.",
"acronym": "DFNA88.",
"accession": "DI-06616",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA88 is characterized by postlingual, progressive and severe hearing loss with tinnitus. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 89.",
"acronym": "DFNA89.",
"accession": "DI-06625",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "An autosomal dominant form of non-syndromic deafness characterized by progressive hearing loss, with onset at birth or early childhood. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 9.",
"acronym": "DFNA9.",
"accession": "DI-00839",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic hearing loss characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Hearing loss is progressive and usually complete by the sixth decade. In addition to cochlear involvement, DFNA9 patients also exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete, and some patients are minimally affected, whereas others suffer from severe balance disturbances and episodes of vertigo. Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular nerves. These depositions apparently cause strangulation and degeneration of dendritic fibers. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 90.",
"acronym": "DFNA90.",
"accession": "DI-06850",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA90 is characterized by bilateral progressive hearing loss that affects all frequencies. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 100.",
"acronym": "DFNB100.",
"accession": "DI-05551",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic, sensorineural deafness characterized by prelingual hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 101.",
"acronym": "DFNB101.",
"accession": "DI-04121",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by bilateral, moderate to severe hearing loss. Vestibular function is unaffected. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 102.",
"acronym": "DFNB102.",
"accession": "DI-04190",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by profound hearing loss affecting all frequencies. Vestibular function is unaffected. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 103.",
"acronym": "DFNB103.",
"accession": "DI-04268",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of sensorineural deafness with onset in early childhood. Hearing impairment progresses from mild to severe or even profound before the second decade, and is accompanied by vestibular areflexia. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 104.",
"acronym": "DFNB104.",
"accession": "DI-04500",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 106.",
"acronym": "DFNB106.",
"accession": "DI-05056",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 107.",
"acronym": "DFNB107.",
"accession": "DI-05057",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 108.",
"acronym": "DFNB108.",
"accession": "DI-05055",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 109.",
"acronym": "DFNB109.",
"accession": "DI-05261",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic, sensorineural deafness characterized by bilateral, congenital, severe to profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB109 affected individuals additionally exhibit vestibular dysplasia, although they do not manifest problems with balance or movement. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 110.",
"acronym": "DFNB110.",
"accession": "DI-05316",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic, sensorineural deafness characterized by prelingual hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB110 affected individuals additionally exhibit mild, age-dependent vestibular dysfunction. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 111.",
"acronym": "DFNB111.",
"accession": "DI-05349",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic, sensorineural deafness characterized by early-onset, moderate to severe hearing loss with no vestibular involvement. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 112.",
"acronym": "DFNB112.",
"accession": "DI-05438",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic, sensorineural deafness characterized by postlingual progressive hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 113.",
"acronym": "DFNB113.",
"accession": "DI-05550",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic, sensorineural deafness characterized by postlingual progressive hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 114.",
"acronym": "DFNB114.",
"accession": "DI-05583",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by congenital profound sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 115.",
"acronym": "DFNB115.",
"accession": "DI-05584",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by severe sensorineural hearing impairment in early childhood. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Leukodystrophy, hypomyelinating, 3.",
"acronym": "HLD3.",
"accession": "DI-03001",
"synonyms": null,
"cross_references": "MeSH; D020279.",
"definition": "A severe autosomal recessive hypomyelinating leukodystrophy characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. ",
"keywords": "KW-1026:Leukodystrophy.; "
}
]
}