{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1860&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1820&ordering=synonyms","results":[{"identifier":"Multiple self-healing squamous epithelioma.","acronym":"MSSE.","accession":"DI-03159","synonyms":"ESS1.; Ferguson-Smith disease.; Ferguson-Smith type epithelioma.; Self-healing squamous epithelioma type 1.; ","cross_references":"MeSH; D007636.","definition":"A disorder characterized by multiple skin tumors that undergo spontaneous regression. Tumors appear most often on sun-exposed regions, are locally invasive, and undergo spontaneous resolution over a period of months leaving pitted scars. ","keywords":null},{"identifier":"Thrombocythemia 1.","acronym":"THCYT1.","accession":"DI-01538","synonyms":"Essential thrombocythemia.; Thrombocytosis 1.; ","cross_references":"MeSH; D013920.","definition":"A myeloproliferative disorder characterized by excessive platelet production, resulting in increased numbers of circulating platelets. It can be associated with spontaneous hemorrhages and thrombotic episodes. ","keywords":null},{"identifier":"Fanconi anemia, complementation group A.","acronym":"FANCA.","accession":"DI-01599","synonyms":"Estren-Dameshek variant of Fanconi anemia.; Estren-Dameshek variant of Fanconi pancytopenia.; FA.; Fanconi anemia.; Fanconi anemia Estren-Dameshek variant.; ","cross_references":"MeSH; D005199.","definition":"A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. ","keywords":"KW-0923:Fanconi anemia.; "},{"identifier":"Estrogen resistance.","acronym":"ESTRR.","accession":"DI-03869","synonyms":"Estrogen insensitivity.; ","cross_references":"MeSH; D004351.","definition":"A disorder characterized by partial or complete resistance to estrogens, in the presence of elevated estrogen serum levels. Clinical features include absence of the pubertal growth spurt, delayed bone maturation, unfused epiphyses, reduced bone mineral density, osteoporosis, continued growth into adulthood and very tall adult stature. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present. ","keywords":"KW-1285:Osteoporosis.; "},{"identifier":"Hypogonadotropic hypogonadism 12 with or without anosmia.","acronym":"HH12.","accession":"DI-03572","synonyms":"Eunuchoidism, familial hypogonadotropic.; FIGD.; Gonadotropin deficiency, familial idiopathic.; ","cross_references":"MeSH; D007006.","definition":"A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). ","keywords":"KW-0956:Kallmann syndrome.; KW-1016:Hypogonadotropic hypogonadism.; "},{"identifier":"Goiter multinodular 1, with or without Sertoli-Leydig cell tumors.","acronym":"MNG1.","accession":"DI-03075","synonyms":"Euthyroid goiter.; Goiter nontoxic with intrathyroidal calcification.; Goiter non-toxic with intrathyroidal calcification.; Multinodular goiter adolescent.; Simple goiter.; ","cross_references":"MeSH; D006044.","definition":"A common disorder characterized by nodular overgrowth of the thyroid gland. Some individuals may also develop Sertoli-Leydig cell tumors, usually of the ovary. ","keywords":null},{"identifier":"Vitreoretinopathy, exudative 2.","acronym":"EVR2.","accession":"DI-01127","synonyms":"EVRX.; Exudative vitreoretinopathy familial 2.; FEVRX.; FEVR X-linked.; X-linked familial exudative vitreoretinopathy.; ","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":"Hyperinsulinemic hypoglycemia, familial, 7.","acronym":"HHF7.","accession":"DI-01584","synonyms":"Exercise-induced hyperinsulinemic hypoglycemia.; ","cross_references":"MeSH; D007003.","definition":"A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF7 features include exercise-induced hyperinsulinism, loss of consciousness due to hypoglycemia, and hypoglycemic seizures. HHF7 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Exfoliation syndrome.","acronym":"XFS.","accession":"DI-02667","synonyms":"Exfoliation glaucoma.; Exfoliative syndrome.; Glaucoma capsulare.; PEX.; Pseudoexfoliation of the lens.; Pseudoexfoliation syndrome.; Pseudo-exfoliation syndrome.; XFG.; ","cross_references":"MeSH; D017889.","definition":"A disorder characterized by accumulation of abnormal fibrillar deposits in the anterior segment of the eye. In addition to being a cause of glaucoma and glaucomatous optic neuropathy, exfoliation syndrome has also been associated with lens zonule weakness, cataract formation, and systemic vascular complications due to deposition of exfoliation material in extraocular tissues. ","keywords":"KW-0955:Glaucoma.; "},{"identifier":"Extraoral halitosis due to methanethiol oxidase deficiency.","acronym":"EHMTO.","accession":"DI-05353","synonyms":"Extraoral halitosis due to MTO deficiency.; Extraoral halitosis with dimethylsulfoxiduria.; Methanethiol oxidase deficiency.; MTO deficiency.; ","cross_references":"MeSH; D006209.","definition":"An autosomal recessive malodor condition characterized by extraoral blood-borne halitosis resulting from the accumulation of sulfur- containing metabolites. In extraoral blood-borne halitosis, malodorant compounds are carried to the lungs, where they enter the breath. Affected individuals have a cabbage-like breath odor, high levels of methanethiol and dimethylsulfide in oral and nasal breath, and elevated urinary excretion of dimethylsulfoxide in the absence of intake of dimethylsulfide-containing food or use of sulfur-containing medication, lower-gastrointestinal problems, and known metabolic defects, such as methionine adenosyltransferase deficiency and tyrosinemia. ","keywords":null},{"identifier":"Dyskeratosis congenita, autosomal dominant, 5.","acronym":"DKCA5.","accession":"DI-00998","synonyms":"Exudative retinopathy with bone marrow failure.; Revesz Debuse syndrome.; Revesz syndrome.; ","cross_references":"MeSH; D019871.","definition":"A disease characterized by bone marrow hypoplasia, nail dystrophy, fine sparse hair, fine reticulate skin pigmentation, oral leukoplakia, bilateral exudative retinopathy, cerebellar hypoplasia, and growth retardation. ","keywords":"KW-1011:Dyskeratosis congenita.; "},{"identifier":"Transaldolase deficiency.","acronym":"TALDOD.","accession":"DI-02377","synonyms":"Eyaid syndrome.; TALDO deficiency.; ","cross_references":"MeSH; D002239.","definition":"An inborn error of the pentose phosphate pathway resulting in early- onset multisystem disease. Clinical features include growth retardation, dysmorphic features, cutis laxa, congenital heart disease, hepatosplenomegaly, telangiectases of the skin, pancytopenia, and bleeding tendency. ","keywords":null},{"identifier":"Factor X deficiency.","acronym":"FA10D.","accession":"DI-03028","synonyms":"F10 deficiency.; Factor 10 deficiency.; Stuart-Prower factor deficiency.; ","cross_references":"MeSH; D005171.","definition":"A hemorrhagic disease with variable presentation. Affected individuals can manifest prolonged nasal and mucosal hemorrhage, menorrhagia, hematuria, and occasionally hemarthrosis. Some patients do not have clinical bleeding diathesis. ","keywords":null},{"identifier":"Factor XI deficiency.","acronym":"FA11D.","accession":"DI-01542","synonyms":"F11 deficiency.; Factor 11 deficiency.; Hemophilia C.; Plasma thromboplastin antecedent deficiency.; PTA deficiency.; Rosenthal factor deficiency.; Rosenthal syndrome.; ","cross_references":"MeSH; D005173.","definition":"A hemorrhagic disease characterized by reduced levels and activity of factor XI resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. Patients usually do not present spontaneous bleeding but women can present with menorrhagia. Hemorrhages are usually moderate. ","keywords":null},{"identifier":"Factor XIII subunit B deficiency.","acronym":"FA13BD.","accession":"DI-02829","synonyms":"F13 deficiency type 1.; Type I F13 deficiency.; ","cross_references":"MeSH; D005177.","definition":"An autosomal recessive hematologic disorder characterized by a life- long bleeding tendency, impaired wound healing and spontaneous abortion in affected women. ","keywords":null},{"identifier":"Factor XIII subunit A deficiency.","acronym":"FA13AD.","accession":"DI-01543","synonyms":"F13 deficiency type 2.; Type II F13 deficiency.; ","cross_references":"MeSH; D005177.","definition":"An autosomal recessive hematologic disorder characterized by a life- long bleeding tendency, impaired wound healing and spontaneous abortion in affected women. ","keywords":null},{"identifier":"Fundus albipunctatus.","acronym":"FALBI.","accession":"DI-04584","synonyms":"FA.; ","cross_references":"MeSH; D012164.","definition":"A form of fleck retina disease characterized by discrete uniform white dots over the entire fundus with greatest density in the mid-periphery and no macular involvement. Night blindness occurs. Inheritance can be autosomal dominant or autosomal recessive. ","keywords":null},{"identifier":"Fanconi anemia complementation group B.","acronym":"FANCB.","accession":"DI-01600","synonyms":"FA2.; Fanconi pancytopenia type 2.; ","cross_references":"MeSH; D005199.","definition":"A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Some severe FANCB cases manifest features of VACTERL syndrome with hydrocephalus. ","keywords":"KW-0923:Fanconi anemia.; "},{"identifier":"Fanconi anemia complementation group C.","acronym":"FANCC.","accession":"DI-03112","synonyms":"FA3.; FAC.; FACC.; Fanconi pancytopenia type 3.; ","cross_references":"MeSH; D005199.","definition":"A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. ","keywords":"KW-0923:Fanconi anemia.; "},{"identifier":"Fanconi anemia complementation group D2.","acronym":"FANCD2.","accession":"DI-02763","synonyms":"FA4.; FACD.; FAD2.; FANCD.; Fanconi anemia complementation group D.; Fanconi pancytopenia type 4.; ","cross_references":"MeSH; D005199.","definition":"A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. ","keywords":"KW-0923:Fanconi anemia.; "}]}