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{
"identifier": "Optic atrophy 13 with retinal and foveal abnormalities.",
"acronym": "OPA13.",
"accession": "DI-05921",
"synonyms": null,
"cross_references": "MeSH; D015418.",
"definition": "An autosomal dominant disease characterized by visual impairment in association with bilateral optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. Many OPA13 patients also exhibit retinal pigmentary defects, attenuated retinal vasculature, macular dystrophy, and foveopathy. Some patients may develop additional systemic features, including sensorineural deafness and progressive nephropathy resulting in renal failure. ",
"keywords": null
},
{
"identifier": "Optic atrophy 12.",
"acronym": "OPA12.",
"accession": "DI-05893",
"synonyms": null,
"cross_references": "MeSH; D015418.",
"definition": "An autosomal dominant disease characterized by progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA12 patients manifest slowly progressive visual impairment with onset usually in the first decade. Some patients may exhibit additional features including impaired intellectual development, dystonia, movement disorders, or ataxia. ",
"keywords": null
},
{
"identifier": "Vitreoretinopathy, exudative 4.",
"acronym": "EVR4.",
"accession": "DI-01128",
"synonyms": null,
"cross_references": "MeSH; D012164.",
"definition": "A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. ",
"keywords": null
},
{
"identifier": "Vitreoretinopathy, exudative 5.",
"acronym": "EVR5.",
"accession": "DI-02686",
"synonyms": null,
"cross_references": "MeSH; D012164.",
"definition": "A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. ",
"keywords": null
},
{
"identifier": "Vitreoretinopathy, exudative 6.",
"acronym": "EVR6.",
"accession": "DI-04484",
"synonyms": null,
"cross_references": "MeSH; D012164.",
"definition": "A form of exudative vitreoretinopathy, a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. ",
"keywords": null
},
{
"identifier": "Vitreoretinopathy, exudative 7.",
"acronym": "EVR7.",
"accession": "DI-05042",
"synonyms": null,
"cross_references": "MeSH; D012164.",
"definition": "A form of exudative vitreoretinopathy, a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. ",
"keywords": null
},
{
"identifier": "Optic atrophy 11.",
"acronym": "OPA11.",
"accession": "DI-04928",
"synonyms": null,
"cross_references": "MeSH; D015418.",
"definition": "An autosomal recessive disease characterized by progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA11 patients also manifest delayed psychomotor development, intellectual disability, ataxia, and leukoencephalopathy on brain imaging. ",
"keywords": null
},
{
"identifier": "Optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures.",
"acronym": "OPA10.",
"accession": "DI-04624",
"synonyms": null,
"cross_references": "MeSH; D015418.",
"definition": "An autosomal recessive disease characterized by progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA10 patients may also manifest mild ataxia, mild intellectual disability and, rarely, generalized seizures. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Opsismodysplasia.",
"acronym": "OPSMD.",
"accession": "DI-03691",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "A rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with very delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges. ",
"keywords": null
},
{
"identifier": "Ophthalmoplegia, external, with rib and vertebral anomalies.",
"acronym": "EORVA.",
"accession": "DI-05356",
"synonyms": null,
"cross_references": "MeSH; D009886.",
"definition": "An autosomal recessive disorder characterized by congenital nonprogressive external ophthalmoplegia, ptosis, scoliosis, torticollis, and vertebral and rib anomalies. ",
"keywords": null
},
{
"identifier": "Oocyte/zygote/embryo maturation arrest 21.",
"acronym": "OZEMA21.",
"accession": "DI-06797",
"synonyms": null,
"cross_references": "MeSH; D007246.",
"definition": "An autosomal dominant, female infertility disorder characterized by zygote development arrest due to failure of pronuclei fusion. ",
"keywords": null
},
{
"identifier": "Oocyte/zygote/embryo maturation arrest 20.",
"acronym": "OZEMA20.",
"accession": "DI-06690",
"synonyms": null,
"cross_references": "MeSH; D007246.",
"definition": "An autosomal recessive, female infertility disorder characterized by early embryonic arrest and fragmentation. Early embryo fragmentation is defined by the presence of anucleate cell fragments derived from the blastomeres. Excessive embryo fragmentation is associated with deleterious outcomes, including decreased implantation rate. ",
"keywords": null
},
{
"identifier": "Omenn syndrome.",
"acronym": "OS.",
"accession": "DI-02093",
"synonyms": null,
"cross_references": "MedGen; C2931884.",
"definition": "Severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels. ",
"keywords": null
},
{
"identifier": "Oligodontia-colorectal cancer syndrome.",
"acronym": "ODCRCS.",
"accession": "DI-02092",
"synonyms": null,
"cross_references": "MedGen; C1837750.",
"definition": "Affected individuals manifest severe tooth agenesis and colorectal cancer or precancerous lesions of variable types. ",
"keywords": null
},
{
"identifier": "Okur-Chung neurodevelopmental syndrome.",
"acronym": "OCNDS.",
"accession": "DI-04799",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by developmental delay, intellectual disability, behavioral problems, hypotonia, speech problems, microcephaly, pachygyria and variable dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Zaki syndrome.",
"acronym": "ZKS.",
"accession": "DI-06290",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disorder characterized by developmental delay, progressive microcephaly, and short stature, as well as dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate. Other variable features have been observed, including ocular, skeletal, cardiac, and renal anomalies. ",
"keywords": null
},
{
"identifier": "Waardenburg syndrome 1.",
"acronym": "WS1.",
"accession": "DI-01133",
"synonyms": null,
"cross_references": "MeSH; D014849.",
"definition": "WS1 is an autosomal dominant disorder characterized by non-progressive sensorineural deafness, pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma, and wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum). WS1 shows variable clinical expression and some affected individuals do not manifest hearing impairment or iris pigmentation disturbances. Dystopia canthorum is the most consistent sign and is found in 98% of the patients. ",
"keywords": "KW-0897:Waardenburg syndrome.; "
},
{
"identifier": "Waardenburg syndrome 2A.",
"acronym": "WS2A.",
"accession": "DI-01135",
"synonyms": null,
"cross_references": "MeSH; D014849.",
"definition": "WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1. ",
"keywords": "KW-0897:Waardenburg syndrome.; "
},
{
"identifier": "Waardenburg syndrome 2D.",
"acronym": "WS2D.",
"accession": "DI-01136",
"synonyms": null,
"cross_references": "MeSH; D014849.",
"definition": "WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1. ",
"keywords": "KW-0897:Waardenburg syndrome.; "
},
{
"identifier": "Oocyte/zygote/embryo maturation arrest 17.",
"acronym": "OZEMA17.",
"accession": "DI-06643",
"synonyms": null,
"cross_references": "MeSH; D007246.",
"definition": "A rare cause of female primary infertility. In affected women, ovulation and fertilization proceed normally but embryos are arrested at early stages of development or cannot establish pregnancy after implantation. Inheritance is autosomal recessive. ",
"keywords": null
}
]
}