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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5260&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5220&ordering=-synonyms",
"results": [
{
"identifier": "Deafness, autosomal recessive, 3.",
"acronym": "DFNB3.",
"accession": "DI-00855",
"synonyms": "Deafness neurosensory autosomal recessive 3.; Neurosensory nonsyndromic recessive deafness 3.; Non-syndromic neurosensory deafness autosomal recessive type 3.; Non-syndromic sensorineural deafness autosomal recessive type 3.; NSRD3.; ",
"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, 2.",
"acronym": "DFNB2.",
"accession": "DI-00854",
"synonyms": "Deafness neurosensory autosomal recessive 2.; Neurosensory nonsyndromic recessive deafness 2.; Non-syndromic neurosensory deafness autosomal recessive type 2.; Non-syndromic sensorineural deafness autosomal recessive type 2.; NSRD2.; ",
"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, 7.",
"acronym": "DFNB7.",
"accession": "DI-00858",
"synonyms": "Deafness neurosensory autosomal recessive 11.; Deafness neurosensory autosomal recessive 7.; DFNB11.; Non-syndromic neurosensory deafness autosomal recessive type 7.; Non-syndromic sensorineural deafness autosomal recessive type 7.; ",
"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": "Heimler syndrome 1.",
"acronym": "HMLR1.",
"accession": "DI-04563",
"synonyms": "Deafness enamel hypoplasia nail defects.; Hearing loss, sensorineural, with enamel hypoplasia and nail defects.; PBD1C.; Peroxisome biogenesis disorder 1C.; Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities.; ",
"cross_references": "MeSH; D009260.",
"definition": "A form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities. ",
"keywords": "KW-0209:Deafness.; KW-0958:Peroxisome biogenesis disorder.; KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Deafness, autosomal recessive, 1B.",
"acronym": "DFNB1B.",
"accession": "DI-00853",
"synonyms": "Deafness digenic GJB2/GJB6.; Deafness neurosensory autosomal recessive 1.; Non-syndromic neurosensory deafness autosomal recessive type 1.; Non-syndromic sensorineural deafness autosomal recessive type 1.; NSRD1.; ",
"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, 1A.",
"acronym": "DFNB1A.",
"accession": "DI-00852",
"synonyms": "Deafness digenic GJB2/GJB3.; Deafness digenic GJB2/GJB6.; Deafness neurosensory autosomal recessive 1.; Non-syndromic neurosensory deafness autosomal recessive type 1.; Non-syndromic sensorineural deafness autosomal recessive type 1.; NSRD1.; ",
"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, 84A.",
"acronym": "DFNB84A.",
"accession": "DI-02691",
"synonyms": "Deafness autosomal recessive 84.; Deafness autosomal recessive 84A with vestibular dysfunction.; Non-syndromic neurosensory deafness autosomal recessive type 84.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by progressive, sensorineural hearing loss and vestibular dysfunction. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Chudley-McCullough syndrome.",
"acronym": "CMCS.",
"accession": "DI-02897",
"synonyms": "Deafness autosomal recessive 82.; DFNB82.; Sensorineural deafness with partial agenesis of the corpus callosum and arachnoid cysts.; ",
"cross_references": "MeSH; D061085.",
"definition": "An autosomal recessive neurologic disorder characterized by early- onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 15.",
"acronym": "DFNB15.",
"accession": "DI-03190",
"synonyms": "Deafness autosomal recessive 72.; Deafness autosomal recessive 95.; DFNB72.; DFNB95.; Non-syndromic neurosensory deafness autosomal recessive type 15.; Non-syndromic sensorineural deafness autosomal recessive type 15.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss with prelingual onset. 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, 32, with or without immotile sperm.",
"acronym": "DFNB32.",
"accession": "DI-05341",
"synonyms": "Deafness, autosomal recessive 105.; Hearing impairment and infertile male syndrome.; HIIMS.; ",
"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. DFNB32 is characterized by prelingual, progressive, moderate to profound sensorineural deafness. Some affected men are infertile. ",
"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, 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, 12.",
"acronym": "DFNA12.",
"accession": "DI-00842",
"synonyms": "Deafness autosomal dominant 8.; DFNA8.; Non-syndromic sensorineural deafness autosomal dominant type 12.; ",
"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, 74.",
"acronym": "DFNA74.",
"accession": "DI-05344",
"synonyms": "Deafness, autosomal dominant 74.; ",
"cross_references": "MeSH; D034381.",
"definition": "A form of non-syndromic deafness characterized by progressive, postlingual hearing loss with onset in the third decade of life. ",
"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, 20.",
"acronym": "DFNA20.",
"accession": "DI-00846",
"synonyms": "Deafness autosomal dominant 26.; DFNA26.; Non-syndromic neurosensory deafness autosomal dominant type 20.; Non-syndromic sensorineural deafness autosomal dominant type 20.; ",
"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, 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, X-linked, 2.",
"acronym": "DFNX2.",
"accession": "DI-02441",
"synonyms": "Deafness 3 conductive with stapes fixation.; Deafness conductive with stapes fixation.; Deafness mixed with perilymphatic gusher.; Deafness mixed with perilymph Gusher X-linked.; DFN3.; Nance deafness.; Perilymphatic gusher-deafness syndrome.; X-linked mixed conductive and neurosensory deafness.; X-linked mixed conductive and sensorineural deafness.; ",
"cross_references": "MeSH; D046089.",
"definition": "A form of deafness characterized by both conductive hearing loss resulting from stapes (perilymphatic gusher) fixation, and progressive sensorineural deafness. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Mohr-Tranebjaerg syndrome.",
"acronym": "MTS.",
"accession": "DI-01988",
"synonyms": "DDP.; DDS.; Deafness-dystonia-optic atrophy syndrome.; Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency.; DFN-1.; Dystonia-deafness syndrome.; Jensen syndrome.; Opticoacoustic nerve atrophy with dementia.; X-linked progressive deafness type 1.; ",
"cross_references": "MeSH; D054062.",
"definition": "An X-linked recessive disorder characterized by postlingual sensorineural deafness with onset in early childhood, dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness. ",
"keywords": "KW-0209:Deafness.; KW-1023:Dystonia.; "
},
{
"identifier": "Frontotemporal dementia.",
"acronym": "FTD.",
"accession": "DI-01632",
"synonyms": "DDPAC.; Disinhibition-dementia-parkinsonism-amyotrophy complex.; FLDEM.; Frontotemporal dementia-amyotrophic lateral sclerosis.; Frontotemporal dementia and parkinsonism linked to chromosome 17.; Frontotemporal dementia with parkinsonism.; Frontotemporal lobar degeneration.; Frontotemporal lobar degeneration with TAU inclusions.; Frontotemporal lobe dementia.; FTD-ALS.; FTDP17.; FTLD.; FTLD with TAU inclusions.; MSTD.; Multiple system tauopathy with presenile dementia.; Pallidopontonigral degeneration.; Pick complex.; PPND.; Wilhelmsen-Lynch disease.; WLD.; ",
"cross_references": "MeSH; D057180.",
"definition": "A form of dementia characterized by pathologic finding of frontotemporal lobar degeneration, presenile dementia with behavioral changes, deterioration of cognitive capacities and loss of memory. In some cases, parkinsonian symptoms are prominent. Neuropathological changes include frontotemporal atrophy often associated with atrophy of the basal ganglia, substantia nigra, amygdala. In most cases, protein tau deposits are found in glial cells and/or neurons. ",
"keywords": "KW-0523:Neurodegeneration.; "
}
]
}