Human Disease List
GET /api/human_diseases/?format=api&offset=2860&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2880&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2840&ordering=-identifier", "results": [ { "identifier": "Macular dystrophy, corneal.", "acronym": "MCD.", "accession": "DI-01925", "synonyms": "Corneal dystrophy macular type.; Groenouw type II corneal dystrophy.; Macular corneal dystrophy type I.; Macular corneal dystrophy type II.; MCDC1.; ", "cross_references": "MeSH; D003317.", "definition": "An ocular disease characterized by bilateral, progressive corneal opacification, and reduced corneal sensitivity. Onset occurs in the first decade, usually between ages 5 and 9. Painful attacks with photophobia, foreign body sensations, and recurrent erosions occur in most patients. The disease is due to deposition of an unsulfated keratan sulfate both within the intracellular space (within the keratocytes and endothelial cells) and in the extracellular corneal stroma. Macular corneal dystrophy is divided into the clinically indistinguishable types I, IA, and II based on analysis of the normally sulfated, or antigenic, keratan sulfate levels in serum and immunohistochemical evaluation of the cornea. Patients with types I and IA macular corneal dystrophy have undetectable serum levels of antigenic keratan sulfate, whereas those with type II macular corneal dystrophy have normal or low levels, depending on the population examined. ", "keywords": "KW-1212:Corneal dystrophy.; " }, { "identifier": "Macular degeneration, early-onset.", "acronym": "EOMD.", "accession": "DI-04285", "synonyms": null, "cross_references": "MeSH; D008268.", "definition": "An ocular disorder characterized by macular changes resulting in progressive loss of visual acuity. ", "keywords": null }, { "identifier": "Macular degeneration, atrophic, X-linked.", "acronym": "MDXLA.", "accession": "DI-03005", "synonyms": null, "cross_references": "MeSH; D008268.", "definition": "An ocular disorder characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment. Some patients manifest extensive macular degeneration plus peripheral loss of retinal pigment epithelium and choriocapillaries. Full-field electroretinograms (ERGs) show normal cone and rod responses in some affected males despite advanced macular degeneration. ", "keywords": null }, { "identifier": "Macular degeneration, age-related, 9.", "acronym": "ARMD9.", "accession": "DI-00062", "synonyms": null, "cross_references": "MeSH; D008268.", "definition": "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ", "keywords": "KW-0913:Age-related macular degeneration.; " }, { "identifier": "Macular degeneration, age-related, 8.", "acronym": "ARMD8.", "accession": "DI-00061", "synonyms": null, "cross_references": "MeSH; D008268.", "definition": "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ", "keywords": "KW-0913:Age-related macular degeneration.; " }, { "identifier": "Macular degeneration, age-related, 7.", "acronym": "ARMD7.", "accession": "DI-00060", "synonyms": null, "cross_references": "MeSH; D008268.", "definition": "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ", "keywords": "KW-0913:Age-related macular degeneration.; " }, { "identifier": "Macular degeneration, age-related, 6.", "acronym": "ARMD6.", "accession": "DI-00059", "synonyms": null, "cross_references": "MeSH; D008268.", "definition": "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ", "keywords": "KW-0913:Age-related macular degeneration.; " }, { "identifier": "Macular degeneration, age-related, 5.", "acronym": "ARMD5.", "accession": "DI-02999", "synonyms": null, "cross_references": "MeSH; D008268.", "definition": "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ", "keywords": "KW-0913:Age-related macular degeneration.; " }, { "identifier": "Macular degeneration, age-related, 4.", "acronym": "ARMD4.", "accession": "DI-00058", "synonyms": null, "cross_references": "MeSH; D008268.", "definition": "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ", "keywords": "KW-0913:Age-related macular degeneration.; " }, { "identifier": "Macular degeneration, age-related, 3.", "acronym": "ARMD3.", "accession": "DI-00057", "synonyms": null, "cross_references": "MeSH; D008268.", "definition": "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ", "keywords": "KW-0913:Age-related macular degeneration.; " }, { "identifier": "Macular degeneration, age-related, 2.", "acronym": "ARMD2.", "accession": "DI-00056", "synonyms": null, "cross_references": "MeSH; D008268.", "definition": "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ", "keywords": "KW-0913:Age-related macular degeneration.; " }, { "identifier": "Macular degeneration, age-related, 15.", "acronym": "ARMD15.", "accession": "DI-03998", "synonyms": null, "cross_references": "MeSH; D008268.", "definition": "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ", "keywords": "KW-0913:Age-related macular degeneration.; " }, { "identifier": "Macular degeneration, age-related, 14.", "acronym": "ARMD14.", "accession": "DI-03919", "synonyms": null, "cross_references": "MeSH; D008268.", "definition": "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ", "keywords": "KW-0913:Age-related macular degeneration.; " }, { "identifier": "Macular degeneration, age-related, 13.", "acronym": "ARMD13.", "accession": "DI-03914", "synonyms": null, "cross_references": "MeSH; D008268.", "definition": "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ", "keywords": "KW-0913:Age-related macular degeneration.; " }, { "identifier": "Macular degeneration, age-related, 12.", "acronym": "ARMD12.", "accession": "DI-03063", "synonyms": null, "cross_references": "MeSH; D008268.", "definition": "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ", "keywords": "KW-0913:Age-related macular degeneration.; " }, { "identifier": "Macular degeneration, age-related, 11.", "acronym": "ARMD11.", "accession": "DI-00064", "synonyms": null, "cross_references": "MeSH; D008268.", "definition": "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ", "keywords": "KW-0913:Age-related macular degeneration.; " }, { "identifier": "Macular degeneration, age-related, 10.", "acronym": "ARMD10.", "accession": "DI-00063", "synonyms": null, "cross_references": "MeSH; D008268.", "definition": "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ", "keywords": "KW-0913:Age-related macular degeneration.; " }, { "identifier": "Macular degeneration, age-related, 1.", "acronym": "ARMD1.", "accession": "DI-00055", "synonyms": null, "cross_references": "MeSH; D008268.", "definition": "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ", "keywords": "KW-0913:Age-related macular degeneration.; " }, { "identifier": "MACS syndrome.", "acronym": "MACS.", "accession": "DI-02637", "synonyms": "Macrocephaly alopecia cutis laxa and scoliosis syndrome.; Tall forehead, sparse hair, skin hyperextensibility, and scoliosis.; ", "cross_references": "MeSH; D058627.", "definition": "A complex disorder of elastic tissue characterized by sagging skin and occasionally by life-threatening visceral complications. ", "keywords": null }, { "identifier": "Macrothrombocytopenia, isolated, 2, autosomal dominant.", "acronym": "MACTHC2.", "accession": "DI-06398", "synonyms": null, "cross_references": "MeSH; D013921.", "definition": "A congenital blood disorder characterized by increased platelet size and decreased number of circulating platelets. Affected individuals usually are asymptomatic and do not have increased bleeding episodes. ", "keywords": null } ] }