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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1620",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1580",
"results": [
{
"identifier": "Deafness, autosomal dominant, 28.",
"acronym": "DFNA28.",
"accession": "DI-00849",
"synonyms": "Non-syndromic neurosensory deafness autosomal dominant type 28.; Non-syndromic sensorineural deafness autosomal dominant type 28.; ",
"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. DFNA28 is characterized by mild to moderate hearing loss across most frequencies that progresses to severe loss in the higher frequencies by the fifth decade. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 2A.",
"acronym": "DFNA2A.",
"accession": "DI-00832",
"synonyms": "Non-syndromic neurosensory deafness autosomal dominant type 2A.; Non-syndromic sensorineural deafness autosomal dominant type 2A.; ",
"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 dominant, 2B.",
"acronym": "DFNA2B.",
"accession": "DI-00833",
"synonyms": "Deafness, autosomal dominant, with or without peripheral neuropathy.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural deafness characterized by progressive high frequency hearing loss in adulthood, with milder expression in females. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 34, with or without inflammation.",
"acronym": "DFNA34.",
"accession": "DI-05146",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of 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. DFNA34 is a postlingual, slowly progressive form with variable severity and variable additional features. Some DFNA34 patients have autoinflammatory manifestations. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 36.",
"acronym": "DFNA36.",
"accession": "DI-00850",
"synonyms": "Non-syndromic neurosensory deafness autosomal dominant type 36.; Non-syndromic sensorineural deafness autosomal dominant type 36.; ",
"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. DFNA36 is a bilateral hearing loss, and begins at 5-10 years of age. It progresses to profound deafness within 10-15 years. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 37.",
"acronym": "DFNA37.",
"accession": "DI-05635",
"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. DFNA37 is a slowly progressive, postlingual form. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1.",
"acronym": "DFNA39/DGI1.",
"accession": "DI-01206",
"synonyms": "DFNA39/dentinogenesis imperfecta 1 syndrome.; DFNA39/DGI1 syndrome.; DGI1/DFNA39 syndrome.; ",
"cross_references": "MeSH; D006319.",
"definition": "A disorder characterized by the association of progressive sensorineural high-frequency hearing loss with dentinogenesis imperfecta. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 3A.",
"acronym": "DFNA3A.",
"accession": "DI-00834",
"synonyms": "Non-syndromic neurosensory deafness autosomal dominant type 3A.; Non-syndromic sensorineural deafness autosomal dominant type 3A.; ",
"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 dominant, 3B.",
"acronym": "DFNA3B.",
"accession": "DI-00835",
"synonyms": "Non-syndromic neurosensory deafness autosomal dominant type 3B.; Non-syndromic sensorineural deafness autosomal dominant type 3B.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss characterized by a variable phenotype, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. 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 dominant, 40.",
"acronym": "DFNA40.",
"accession": "DI-04417",
"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 dominant, 41.",
"acronym": "DFNA41.",
"accession": "DI-03966",
"synonyms": null,
"cross_references": "MeSH; D003638.",
"definition": "A form of non-syndromic deafness characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 44.",
"acronym": "DFNA44.",
"accession": "DI-01220",
"synonyms": null,
"cross_references": "MeSH; D003638.",
"definition": "A form of non-syndromic deafness characterized by initially moderate hearing loss that affects mainly low to mid frequencies. Later, it progresses to involve all the frequencies and leads to a profound hearing loss by the 6th decade. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 48.",
"acronym": "DFNA48.",
"accession": "DI-00851",
"synonyms": "Deafness autosomal dominant due to mutation in MYO1A.; Non-syndromic neurosensory deafness autosomal dominant type 48.; Non-syndromic sensorineural deafness autosomal dominant type 48.; ",
"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 dominant, 4A.",
"acronym": "DFNA4A.",
"accession": "DI-00836",
"synonyms": "Deafness autosomal dominant 4.; DFNA4.; Non-syndromic neurosensory deafness autosomal dominant type 4.; Non-syndromic sensorineural deafness autosomal dominant type 4.; ",
"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 dominant, 4B.",
"acronym": "DFNA4B.",
"accession": "DI-03419",
"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 dominant, 5.",
"acronym": "DFNA5.",
"accession": "DI-00837",
"synonyms": "Non-syndromic neurosensory deafness autosomal dominant type 5.; Non-syndromic sensorineural deafness autosomal dominant type 5.; ",
"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 dominant, 56.",
"acronym": "DFNA56.",
"accession": "DI-04030",
"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. DFNA56 is characterized by progressive hearing impairment with postlingual onset. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 6.",
"acronym": "DFNA6.",
"accession": "DI-00838",
"synonyms": "Deafness autosomal dominant 14.; Deafness autosomal dominant 38.; DFNA14.; DFNA38.; Non-syndromic neurosensory deafness autosomal dominant type 6.; Non-syndromic sensorineural deafness autosomal dominant type 6.; ",
"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. DFNA6 is a low-frequency hearing loss in which frequencies of 2000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high-frequency hearing is generally preserved, patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high-frequency loss later in life. DFNA6 worsens over time without progressing to profound deafness. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 64.",
"acronym": "DFNA64.",
"accession": "DI-03231",
"synonyms": "Non-syndromic neurosensory deafness autosomal dominant type 64.; Non-syndromic sensorineural deafness autosomal dominant type 64.; ",
"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 dominant, 65.",
"acronym": "DFNA65.",
"accession": "DI-04244",
"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. DFNA65 is characterized by postlingual onset of slowly progressive hearing loss in the third decade. Initially affecting the high frequencies, the hearing loss eventually affects all frequencies and results in severe to profound deafness in the seventh decade. Vestibular function is normal. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
}
]
}