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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1700&ordering=-synonyms",
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"results": [
{
"identifier": "Deafness, autosomal recessive, 117.",
"acronym": "DFNB117.",
"accession": "DI-06028",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by prelingual, moderate-to-profound 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. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 118, with cochlear aplasia.",
"acronym": "DFNB118.",
"accession": "DI-06233",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by congenital profound sensorineural hearing loss and cochlear aplasia. 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. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 119.",
"acronym": "DFNB119.",
"accession": "DI-06271",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by mild to profound 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. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 24.",
"acronym": "DFNB24.",
"accession": "DI-02066",
"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": "Galloway-Mowat syndrome 8.",
"acronym": "GAMOS8.",
"accession": "DI-05500",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS8 inheritance is autosomal recessive. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal recessive, 120.",
"acronym": "DFNB120.",
"accession": "DI-06605",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by congenital or prelingual onset of severe to profound 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. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 121.",
"acronym": "DFNB121.",
"accession": "DI-06784",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "A form of non-syndromic deafness characterized by congenital or prelingual onset of moderate 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. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 122.",
"acronym": "DFNB122.",
"accession": "DI-06846",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by adult-onset progressive, 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. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 123.",
"acronym": "DFNB123.",
"accession": "DI-06863",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by bilateral, severe to profound sensorineural hearing loss with onset in the first decade of life. 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. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 124.",
"acronym": "DFNB124.",
"accession": "DI-06888",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by progressive sensorineural hearing loss with onset at birth. 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. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Carney complex variant.",
"acronym": "CACOV.",
"accession": "DI-01320",
"synonyms": null,
"cross_references": "MedGen; C1837245.",
"definition": "Carney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history. ",
"keywords": null
},
{
"identifier": "Dystonia 22, juvenile-onset.",
"acronym": "DYT22JO.",
"accession": "DI-06726",
"synonyms": null,
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT22JO is an autosomal recessive form characterized by progressive, generalized dystonia associated with intellectual disability, cognitive decline, and cerebellar atrophy. ",
"keywords": "KW-0991:Intellectual disability.; KW-1023:Dystonia.; "
},
{
"identifier": "Dystonia 32.",
"acronym": "DYT32.",
"accession": "DI-06279",
"synonyms": null,
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT32 is an autosomal recessive, slowly progressive form with onset in adulthood and generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Deafness, autosomal recessive, 18B.",
"acronym": "DFNB18B.",
"accession": "DI-03621",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "A form of non-syndromic deafness characterized by a moderate hearing impairment, which can be associated with vestibular dysfunction, and a flat to shallow 'U' or slightly downsloping shaped audiograms. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 5.",
"acronym": "FTDALS5.",
"accession": "DI-06001",
"synonyms": null,
"cross_references": "MeSH; D057174.",
"definition": "A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. FTDALS5 is an autosomal dominant form with age-dependent penetrance. Penetrance is estimated to be 50% by age 56 and 100% by age 61. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Digital arthropathy-brachydactyly, familial.",
"acronym": "FDAB.",
"accession": "DI-03486",
"synonyms": null,
"cross_references": "MeSH; D059327.",
"definition": "A disorder characterized by irregularities in the proximal articular surfaces of the distal interphalangeal joints of the hand. Individuals appear normal at birth, with no clinical or radiographic evidence of a developmental skeletal dysplasia. The earliest changes appear during the first decade of life. By adulthood, all interphalangeal, metacarpophalangeal, and metatarsophalangeal joints are affected by a deforming, painful osteoarthritis. The remainder of the skeleton is clinically and radiographically unaffected. ",
"keywords": null
},
{
"identifier": "Diabetes mellitus, permanent neonatal, 4.",
"acronym": "PNDM4.",
"accession": "DI-05825",
"synonyms": null,
"cross_references": "MeSH; D003920.",
"definition": "A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. PNDM4 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Focal segmental glomerulosclerosis 6.",
"acronym": "FSGS6.",
"accession": "DI-03188",
"synonyms": null,
"cross_references": "MeSH; D005923.",
"definition": "A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. FSGS6 is a childhood-onset disorder resulting in nephrotic syndrome, which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. ",
"keywords": null
},
{
"identifier": "Hydrolethalus syndrome 1.",
"acronym": "HLS1.",
"accession": "DI-01760",
"synonyms": null,
"cross_references": "MeSH; D006849.",
"definition": "A lethal syndrome characterized by polydactyly, central nervous system malformation, and hydrocephalus. The polydactyly is postaxial in the hands and preaxial in the feet. A highly characteristic hallux duplex is seen in almost no other situation. In half of the cases, a large atrioventricular communis defect of the heart is found. The pregnancy is characterized by hydramnios, which is often massive, and by preterm delivery. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Lipodystrophy, familial partial, 8.",
"acronym": "FPLD8.",
"accession": "DI-06825",
"synonyms": null,
"cross_references": "MeSH; D052496.",
"definition": "An autosomal dominant form of partial lipodystrophy, a disorder characterized by abnormal subcutaneous fat distribution. FPLD8 patients show selective loss of subcutaneous adipose tissue from the limbs, beginning around 13 to 15 years of age, and abnormal accumulation of subcutaneous adipose tissue in the dorsal neck and face, as well as in the posterior thoracic and abdominal regions. The disorder is associated with metabolic abnormalities, including diabetes mellitus and hyperlipidemia. ",
"keywords": null
}
]
}