Human Disease List
GET /api/human_diseases/?format=api&offset=2840&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2860&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2820&ordering=-identifier", "results": [ { "identifier": "Male pseudohermaphrodism with gynecomastia.", "acronym": "MPH.", "accession": "DI-01928", "synonyms": "17-beta hydroxysteroid dehydrogenase III deficiency.; 17-ketosteroid reductase deficiency of testis.; 17-KSR deficiency.; Neutral 17-beta-hydroxysteroid oxidoreductase deficiency.; Pseudohermaphroditism, male, with gynecomastia.; ", "cross_references": "MeSH; D058490.", "definition": "An autosomal recessive disorder that manifests, in males, as undermasculinization characterized by hypoplastic-to-normal internal genitalia (epididymis, vas deferens, seminal vesicles, and ejaculatory ducts) but female external genitalia and the absence of a prostate. This phenotype is caused by inadequate testicular synthesis of testosterone, which, in turn, results in insufficient formation of dihydrotestosterone in the anlage of the external genitalia and prostate during fetal development. At the expected time of puberty, there is a marked increase in plasma leuteinizing hormone and, consequently, in testicular secretion of androstenedione. Hence, a diagnostic hallmark of this disorder is a decreased plasma testosterone-to-androstenedione ratio. Significant amounts of the circulating androstenedione are, however, converted to testosterone, in peripheral tissues, thereby causing virilization. ", "keywords": null }, { "identifier": "Mal de Meleda.", "acronym": "MDM.", "accession": "DI-00698", "synonyms": "Keratosis palmoplantaris transgradiens of Siemens.; Meleda disease.; ", "cross_references": "MeSH; D007645.", "definition": "A rare autosomal recessive skin disorder, characterized by diffuse transgressive palmoplantar keratoderma with keratotic lesions extending onto the dorsa of the hands and the feet (transgrediens). Patients may have hyperhidrosis. Other features include perioral erythema, lichenoid plaques on the knees and the elbows, and nail abnormalities. ", "keywords": "KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Malan syndrome.", "acronym": "MALNS.", "accession": "DI-03506", "synonyms": "Malan overgrowth syndrome.; SOTOS2.; Sotos syndrome 2.; ", "cross_references": "MeSH; D058495.", "definition": "An autosomal dominant syndrome characterized by overgrowth, advanced bone age, macrocephaly, impaired intellectual development, behavior anomalies, and dysmorphic facial features. Patients develop marfanoid habitus, with long and slender body, very low body mass, long narrow face, and arachnodactyly. ", "keywords": null }, { "identifier": "Major depressive disorder.", "acronym": "MDD.", "accession": "DI-00697", "synonyms": "SAD.; Seasonal affective disorder.; Unipolar depression.; ", "cross_references": "MeSH; D003865.", "definition": "A common psychiatric disorder. It is a complex trait characterized by one or more major depressive episodes without a history of manic, mixed, or hypomanic episodes. A major depressive episode is characterized by at least 2 weeks during which there is a new onset or clear worsening of either depressed mood or loss of interest or pleasure in nearly all activities. Four additional symptoms must also be present including changes in appetite, weight, sleep, and psychomotor activity; decreased energy; feelings of worthlessness or guilt; difficulty thinking, concentrating, or making decisions; or recurrent thoughts of death or suicidal ideation, plans, or attempts. The episode must be accompanied by distress or impairment in social, occupational, or other important areas of functioning. ", "keywords": null }, { "identifier": "Major affective disorder 7.", "acronym": "MAFD7.", "accession": "DI-02890", "synonyms": "Bipolar affective disorder.; Manic depressive illness.; Manic-depressive psychosis.; ", "cross_references": "MeSH; D001714.", "definition": "A major psychiatric disorder that is characterized by severe mood swings, with fluctuation between two abnormal mood states (manic or major depressive episode). Mania is accompanied by symptoms of euphoria, irritability, or excitation, whereas depression is associated with low mood and decreased motivation and energy. ", "keywords": null }, { "identifier": "Majeed syndrome.", "acronym": "MJDS.", "accession": "DI-01926", "synonyms": "Chronic recurrent multifocal osteomyelitis, with congenital dyserythropoietic anemia and neutrophilic dermatosis.; Chronic recurrent multifocal osteomyelitis 1, with congenital dyserythropoietic anemia, with or without neutrophilic dermatosis;.; CRMO1.; ", "cross_references": "MeSH; D000742.", "definition": "An autosomal recessive syndrome characterized by chronic recurrent multifocal osteomyelitis that is of early onset with a lifelong course, congenital dyserythropoietic anemia that presents as hypochromic, microcytic anemia during the first year of life and ranges from mild to transfusion-dependent, and transient inflammatory dermatosis, often manifesting as Sweet syndrome (neutrophilic skin infiltration). ", "keywords": "KW-1055:Congenital dyserythropoietic anemia.; " }, { "identifier": "Mahvash disease.", "acronym": "MVAH.", "accession": "DI-06086", "synonyms": "Alpha-cell hyperplasia with glucagonemia.; ", "cross_references": "MeSH; D010182.", "definition": "An autosomal recessive disorder characterized by alpha-cell hyperplasia of the pancreas, hyperglucagonemia without glucagonoma syndrome, aminoacidemia, and occasional hypoglycemia. The disease may lead to glucagonomas and/or primitive neuroectodermal tumors. ", "keywords": null }, { "identifier": "Maculopathy, IMPG2-related.", "acronym": "MACLP-IMPG2.", "accession": "DI-02910", "synonyms": null, "cross_references": "MeSH; D008268.", "definition": "A mild maculopathy characterized by full-field electroretinogram responses within normal limits, normal color vision, elevation of the photoreceptor layer in the foveal region and mild nuclear sclerosis. ", "keywords": null }, { "identifier": "Macular dystrophy with or without cone dysfunction.", "acronym": "MDCD.", "accession": "DI-06857", "synonyms": null, "cross_references": "MeSH; D008268.", "definition": "A form of macular dystrophy, a retinal disease in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea. MDCD is a progressive, autosomal recessive form characterized by reduced visual acuity and macular atrophy involving the fovea. Some patients also exhibit mild generalized cone dysfunction. ", "keywords": null }, { "identifier": "Macular dystrophy with central cone involvement.", "acronym": "CCMD.", "accession": "DI-04295", "synonyms": null, "cross_references": "MeSH; D005128.", "definition": "An ocular disease characterized by decreased visual acuity, slight pigmentary changes and color vision abnormalities, becoming apparent in the third to sixth decade of life. Fundus anomalies are variable and include bull's eye maculopathy, severe atrophy of central fovea, relatively spared fovea with surrounding atrophic ring, central retinal pigment epithelium and/or choroid changes, pale or atrophic peripapillary area, pale optic disk, relatively spared periphery, and slightly or moderately attenuated vessels. ", "keywords": null }, { "identifier": "Macular dystrophy, vitelliform, 5.", "acronym": "VMD5.", "accession": "DI-04287", "synonyms": null, "cross_references": "MeSH; D057826.", "definition": "A form of macular dystrophy, a retinal disease in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea. Vitelliform macular dystrophies are characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. VMD5 features include late-onset moderate visual impairment and preservation of retinal pigment epithelium reflectivity. ", "keywords": null }, { "identifier": "Macular dystrophy, vitelliform, 4.", "acronym": "VMD4.", "accession": "DI-04286", "synonyms": null, "cross_references": "MeSH; D057826.", "definition": "A form of macular dystrophy, a retinal disease in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea. Vitelliform macular dystrophies are characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. VMD4 features include late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, and preservation of retinal pigment epithelium reflectivity. ", "keywords": null }, { "identifier": "Macular dystrophy, vitelliform, 3.", "acronym": "VMD3.", "accession": "DI-00051", "synonyms": "Adult-onset foveomacular dystrophy.; Adult-onset vitelliform macular dystrophy.; AOFMD.; AVMD.; Foveomacular dystrophy, adult-onset, with or without choroidal neovascularization.; ", "cross_references": "MeSH; D057826.", "definition": "A form of vitelliform macular dystrophy, a retinal disease characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity. ", "keywords": null }, { "identifier": "Macular dystrophy, vitelliform, 2.", "acronym": "VMD2.", "accession": "DI-01124", "synonyms": "Best's macular dystrophy.; Best disease.; Best macular dystrophy.; Best vitelliform macular dystrophy.; Best vitelliform macular dystrophy, multifocal.; BMD.; Early-onset vitelliform macular dystrophy.; Juvenile-onset vitelliform macular dystrophy.; Macular degeneration, polymorphic vitelline.; VMD.; ", "cross_references": "MeSH; D057826.", "definition": "An autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg- yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss. ", "keywords": null }, { "identifier": "Macular dystrophy, retinal, 5.", "acronym": "MCDR5.", "accession": "DI-06652", "synonyms": null, "cross_references": "MeSH; D008268.", "definition": "An autosomal recessive, late-onset form of of macular dystrophy, a group of inherited retinal disorders that cause significant visual loss, most often as a result of progressive macular atrophy. MCDR5 symptoms include reduced visual acuity, difficulty reading, photopsias in the central visual field, poor contrast vision, and metamorphopsia. Night blindness is uncommon. ", "keywords": null }, { "identifier": "Macular dystrophy, retinal, 4.", "acronym": "MCDR4.", "accession": "DI-06454", "synonyms": null, "cross_references": "MeSH; D008268.", "definition": "An autosomal dominant retinal disease characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization. Patients also exhibit extensive retinal dysfunction with impaired rod function. ", "keywords": null }, { "identifier": "Macular dystrophy, retinal, 2.", "acronym": "MCDR2.", "accession": "DI-00968", "synonyms": null, "cross_references": "MeSH; D008268.", "definition": "An autosomal dominant retinal disease characterized by dyschromatopsia, gradual progressive loss of central visual acuity, and bilateral annular atrophy of retinal pigment epithelium at the macula. ", "keywords": null }, { "identifier": "Macular dystrophy, patterned, 3.", "acronym": "MDPT3.", "accession": "DI-04818", "synonyms": "Martinique crinkled retinal pigment epitheliopathy.; ", "cross_references": "MeSH; D058499.", "definition": "A form of retinal patterned dystrophy, characterized by retinal pigment epithelium and Bruch's membrane changes resembling a 'dry desert land'. It begins around the age of 30 and progresses to retinitis pigmentosa. MDPT3 inheritance is autosomal dominant. ", "keywords": null }, { "identifier": "Macular dystrophy, patterned, 2.", "acronym": "MDPT2.", "accession": "DI-04710", "synonyms": "Macular dystrophy, butterfly-shaped pigmentary, 2.; ", "cross_references": "MeSH; D058499.", "definition": "A form of retinal patterned dystrophy, a heterogeneous group of macular disorders caused by abnormal accumulation of lipofuscin in the retinal pigment epithelium. Lipofuscin distribution can show various shapes that define different types of macular dystrophy, including reticular (fishnet-like) dystrophy, macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment dystrophy. MDPT2 is an autosomal dominant form characterized by bilateral accumulation of pigment in the macular area that resembles the wings of a butterfly. ", "keywords": null }, { "identifier": "Macular dystrophy, patterned, 1.", "acronym": "MDPT1.", "accession": "DI-00902", "synonyms": "Butterfly dystrophy of retinal pigment epithelium.; Macular dystrophy, butterfly-shaped pigmentary.; Patterned dystrophy of retinal pigment epithelium.; ", "cross_references": "MeSH; D058499.", "definition": "A form of retinal patterned dystrophy, a heterogeneous group of macular disorders that includes reticular (fishnet-like) dystrophy, macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment dystrophy. ", "keywords": null } ] }