HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4880&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4840&ordering=synonyms",
"results": [
{
"identifier": "Deafness, autosomal recessive, 88.",
"acronym": "DFNB88.",
"accession": "DI-03888",
"synonyms": null,
"cross_references": "MeSH; D046089.",
"definition": "A form of non-syndromic deafness characterized by prelingual onset of severe to profound mixed conductive and sensorineural hearing loss. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 89.",
"acronym": "DFNB89.",
"accession": "DI-03865",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by bilateral, prelingual, moderate to severe hearing loss affecting all frequencies. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Cataract 45.",
"acronym": "CTRCT45.",
"accession": "DI-04671",
"synonyms": null,
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Deafness, autosomal recessive, 94.",
"acronym": "DFNB94.",
"accession": "DI-05552",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic, sensorineural deafness characterized by prelingual, profound, bilateral 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, 97.",
"acronym": "DFNB97.",
"accession": "DI-04599",
"synonyms": null,
"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, 98.",
"acronym": "DFNB98.",
"accession": "DI-03535",
"synonyms": null,
"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, 99.",
"acronym": "DFNB99.",
"accession": "DI-05585",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by prelingual, bilateral, severe-to-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, cataract, impaired intellectual development, and polyneuropathy.",
"acronym": "DCIDP.",
"accession": "DI-06133",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "An autosomal recessive disease characterized by early onset of deafness, cataract, severe developmental delay, and severely impaired intellectual development. Patients later develop polyneuropathy of the lower extremities, associated with depigmentation of the hair in that area. ",
"keywords": "KW-0209:Deafness.; KW-0622:Neuropathy.; KW-0898:Cataract.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, congenital heart defects, and posterior embryotoxon.",
"acronym": "DCHE.",
"accession": "DI-05252",
"synonyms": null,
"cross_references": "MeSH; D000013.",
"definition": "An autosomal dominant disease characterized by mild to severe combined hearing loss, congenital heart defects, and posterior embryotoxon, a corneal abnormality consisting of a central collagen core surrounded by a thin layer of Descemets membrane and separated from the anterior chamber by a layer of endothelium. Congenital heart defects include tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Deafness, congenital, and adult-onset progressive leukoencephalopathy.",
"acronym": "DEAPLE.",
"accession": "DI-06032",
"synonyms": null,
"cross_references": "MeSH; D056784.",
"definition": "An autosomal recessive, complex neurodegenerative disorder characterized by congenital sensorineural deafness, and progressive motor and cognitive decline apparent in young adulthood. Brain imaging shows diffuse white matter abnormalities affecting various brain regions, consistent with a progressive leukoencephalopathy. More variable additional features may include visual impairment and axonal peripheral neuropathy. Premature death may occurr in some patients. ",
"keywords": "KW-0209:Deafness.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Deafness, congenital, unilateral or asymmetric.",
"acronym": "DCUA.",
"accession": "DI-04598",
"synonyms": null,
"cross_references": "MeSH; D046088.",
"definition": "An autosomal dominant form of non-syndromic, sensorineural deafness characterized by inability to hear affecting one ear. Some patients suffers from asymmetric, bilateral hearing loss. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Cataract 43.",
"acronym": "CTRCT43.",
"accession": "DI-04361",
"synonyms": null,
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Deafness, dystonia, and cerebral hypomyelination.",
"acronym": "DDCH.",
"accession": "DI-03930",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An X-linked recessive syndrome characterized by sensorineural deafness, intellectual disability, dysmorphic facial features, dystonia, pyramidal signs, almost no psychomotor development, and hypomyelination on brain imaging. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; KW-1023:Dystonia.; "
},
{
"identifier": "Cataract 42.",
"acronym": "CTRCT42.",
"accession": "DI-04171",
"synonyms": null,
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Deafness, sensorineural, mitochondrial.",
"acronym": "DFNM.",
"accession": "DI-02887",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness with maternal inheritance. Affected individuals manifest progressive, postlingual, sensorineural hearing loss involving high frequencies. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Cataract 50 with or without glaucoma.",
"acronym": "CTRCT50.",
"accession": "DI-06610",
"synonyms": null,
"cross_references": "MeSH; D002386.",
"definition": "A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT50 is an autosomal dominant form characterized by early onset. Affected individuals may also exhibit high-tension glaucoma and variable anterior segment defects. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Cataract 39, multiple types.",
"acronym": "CTRCT39.",
"accession": "DI-03806",
"synonyms": null,
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT39 includes lamellar, anterior polar, and complete cataracts. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Deafness, X-linked, 6.",
"acronym": "DFNX6.",
"accession": "DI-04012",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A non-syndromic form of 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, X-linked, 7.",
"acronym": "DFNX7.",
"accession": "DI-05369",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A congenital form of bilateral mixed or conductive hearing loss, which is progressive in some patients. Additional clinical features include ear anomalies and facial dysmorphism with bilateral ptosis. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Deafness, Y-linked 2.",
"acronym": "DFNY2.",
"accession": "DI-05525",
"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. DFNY2 patients show bilateral symmetric hearing loss ranging from mild to severe, with onset in the third to fifth decades of life. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
}
]
}