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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4860&ordering=synonyms",
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"results": [
{
"identifier": "Cavitary optic disc anomalies.",
"acronym": "CODA.",
"accession": "DI-04537",
"synonyms": null,
"cross_references": "MeSH; D015785.",
"definition": "An ocular disease characterized by a profound excavation of the optic nerve. Clinical phenotype is variable and includes congenitally excavated optic nerves as well as other features of optic pit, optic nerve coloboma, and morning glory disk anomaly. Patients with CODA have a strong predilection for retinal detachment and/or separation of the retinal layers (retinoschisis) that lead to profound central vision loss. ",
"keywords": null
},
{
"identifier": "Deafness, autosomal recessive, 35.",
"acronym": "DFNB35.",
"accession": "DI-00872",
"synonyms": null,
"cross_references": "MeSH; D003638.",
"definition": "A form of non-syndromic deafness characterized by non-progressive, prelingual hearing loss. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Caudal duplication anomaly.",
"acronym": "CADUA.",
"accession": "DI-02877",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A condition characterized by the occurrence of duplications of different organs in the caudal region. ",
"keywords": null
},
{
"identifier": "Cataracts, spastic paraparesis, and speech delay.",
"acronym": "CSPSD.",
"accession": "DI-06115",
"synonyms": null,
"cross_references": "MeSH; D009461.",
"definition": "An autosomal dominant disease characterized by bilateral cataracts apparent at birth or in infancy, spastic paraparesis, truncal hypotonia, delayed psychomotor development, and speech delay. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2.",
"acronym": "CHINE2.",
"accession": "DI-06696",
"synonyms": null,
"cross_references": "MeSH; D009404.",
"definition": "An autosomal recessive disorder characterized by infantile onset of steroid-resistant nephrotic syndrome, cataracts, sensorineural deafness, and enterocolitis. It results in death in early childhood. ",
"keywords": "KW-0209:Deafness.; KW-0898:Cataract.; "
},
{
"identifier": "Deafness, autosomal recessive, 44.",
"acronym": "DFNB44.",
"accession": "DI-04170",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by prelingual profound hearing loss affecting all frequencies. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 57.",
"acronym": "DFNB57.",
"accession": "DI-05260",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic, sensorineural deafness characterized by symmetric, bilateral hearing loss with onset in early childhood. Vestibular function is preserved. 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. DFNB57 severity ranges from moderate to severe. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1.",
"acronym": "CHINE1.",
"accession": "DI-06695",
"synonyms": null,
"cross_references": "MeSH; D009404.",
"definition": "An X-linked dominant disorder characterized by infantile onset of steroid-resistant nephrotic syndrome, cataracts, sensorineural deafness, and enterocolitis. Males are more severely affected than females, and death occurs in early childhood. Affected females develop early-onset hearing impairment, early-onset cataracts, but only rarely have nephrotic syndrome. They do not have enterocolitis. ",
"keywords": "KW-0209:Deafness.; KW-0898:Cataract.; "
},
{
"identifier": "Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.",
"acronym": "CAGSSS.",
"accession": "DI-04264",
"synonyms": null,
"cross_references": "MeSH; D009477.",
"definition": "An autosomal recessive disorder characterized by cataracts, short- stature secondary to growth hormone deficiency, sensorineural hearing deficit, peripheral sensory neuropathy, skeletal dysplasia, scoliosis, and facial dysmorphism. ",
"keywords": "KW-0209:Deafness.; KW-0622:Neuropathy.; KW-0898:Cataract.; "
},
{
"identifier": "Deafness, autosomal recessive, 66.",
"acronym": "DFNB66.",
"accession": "DI-04549",
"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, 67.",
"acronym": "DFNB67.",
"accession": "DI-02067",
"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, 68.",
"acronym": "DFNB68.",
"accession": "DI-04685",
"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": "Cataract, multiple types 19.",
"acronym": "CTRCT19.",
"accession": "DI-03783",
"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, 70, with or without adult-onset neurodegeneration.",
"acronym": "DFNB70.",
"accession": "DI-03614",
"synonyms": null,
"cross_references": "MeSH; D003638.",
"definition": "A form of non-syndromic deafness characterized by severe, bilateral hearing impairment with prelingual onset, resulting in inability to acquire normal speech. Affected individuals may develop a neurodegenerative disease in adulthood, including ataxia with loss of ambulation, optic atrophy, dystonia or spasticity, and cognitive decline with psychiatric features. ",
"keywords": "KW-0523:Neurodegeneration.; KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 74.",
"acronym": "DFNB74.",
"accession": "DI-02958",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural deafness characterized by prelingual, bilateral, 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. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 76.",
"acronym": "DFNB76.",
"accession": "DI-03957",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural deafness, a disorder resulting 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. DFNB76 affected individuals have onset of progressive high frequency hearing impairment between birth and 6 years of age. The hearing loss is severe at high frequencies by adulthood. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Chronic atrial and intestinal dysrhythmia.",
"acronym": "CAID.",
"accession": "DI-04314",
"synonyms": null,
"cross_references": "MeSH; D012804.",
"definition": "A disease characterized by dysregulation of the cardiac sinus node resulting in sick sinus syndrome, in association with chronic intestinal pseudo-obstruction, a disorder of gastrointestinal motility in which intestinal obstruction occurs in the absence of a mechanical obstacle. ",
"keywords": null
},
{
"identifier": "Cataract 48.",
"acronym": "CTRCT48.",
"accession": "DI-05553",
"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. CTRCT48 is an autosomal recessive form characterized by infantile or early-childhood onset. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Deafness, autosomal recessive, 84B.",
"acronym": "DFNB84B.",
"accession": "DI-03565",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by congenital, non- progressive, sensorineural, symmetric hearing loss. Vestibular hypofunction is rarely observed. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 86.",
"acronym": "DFNB86.",
"accession": "DI-04026",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by prelingual onset of profound sensorineural hearing loss affecting all frequencies. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
}
]
}