Human Disease List
GET /api/human_diseases/?format=api&offset=3820&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3840&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3800&ordering=-identifier", "results": [ { "identifier": "Hypogonadotropic hypogonadism 17 with or without anosmia.", "acronym": "HH17.", "accession": "DI-03768", "synonyms": null, "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": "Hypogonadotropic hypogonadism 16 with or without anosmia.", "acronym": "HH16.", "accession": "DI-03576", "synonyms": null, "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": "Hypogonadotropic hypogonadism 15 with or without anosmia.", "acronym": "HH15.", "accession": "DI-03575", "synonyms": null, "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": "Hypogonadotropic hypogonadism 14 with or without anosmia.", "acronym": "HH14.", "accession": "DI-03574", "synonyms": null, "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": "Hypogonadotropic hypogonadism 13 with or without anosmia.", "acronym": "HH13.", "accession": "DI-03573", "synonyms": null, "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-1016:Hypogonadotropic hypogonadism.; " }, { "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": "Hypogonadotropic hypogonadism 11 with or without anosmia.", "acronym": "HH11.", "accession": "DI-03571", "synonyms": null, "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-1016:Hypogonadotropic hypogonadism.; " }, { "identifier": "Hypogonadotropic hypogonadism 10 with or without anosmia.", "acronym": "HH10.", "accession": "DI-03570", "synonyms": null, "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-1016:Hypogonadotropic hypogonadism.; " }, { "identifier": "Hypochondroplasia.", "acronym": "HCH.", "accession": "DI-01786", "synonyms": null, "cross_references": "MedGen; C0410529.", "definition": "Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype. ", "keywords": null }, { "identifier": "Hypocalciuric hypercalcemia, familial 3.", "acronym": "HHC3.", "accession": "DI-03662", "synonyms": "Familial benign hypercalcemia 3.; Familial benign hypercalcemia Oklahoma type.; Familial benign hypocalciuric hypercalcemia 3.; FBH3.; FBHH3.; FHH3.; Hypocalciuric hypercalcemia type III.; ", "cross_references": "MeSH; D006934.", "definition": "A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. ", "keywords": null }, { "identifier": "Hypocalciuric hypercalcemia, familial 2.", "acronym": "HHC2.", "accession": "DI-03852", "synonyms": "Familial benign hypercalcemia type II.; FBH2.; ", "cross_references": "MeSH; D006934.", "definition": "A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. ", "keywords": null }, { "identifier": "Hypocalciuric hypercalcemia, familial 1.", "acronym": "HHC1.", "accession": "DI-01588", "synonyms": "Familial benign hypercalcemia 1.; Familial benign hypocalciuric hypercalcemia 1.; FBH1.; FBHH1.; FHH.; FHH1.; HHC.; Hypocalciuric hypercalcemia type I.; ", "cross_references": "MeSH; D006934.", "definition": "A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. ", "keywords": null }, { "identifier": "Hypocalcemia, autosomal dominant 2.", "acronym": "HYPOC2.", "accession": "DI-03851", "synonyms": null, "cross_references": "MeSH; D006996.", "definition": "A form of hypocalcemia, a disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. ", "keywords": null }, { "identifier": "Hypocalcemia, autosomal dominant 1.", "acronym": "HYPOC1.", "accession": "DI-03841", "synonyms": "Autosomal dominant hypocalcemia with Bartter syndrome.; Familial hypocalcemia.; Hypercalciuric hypocalcemia.; ", "cross_references": "MeSH; D006996.", "definition": "A disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include mild or asymptomatic hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. Few patients manifest hypocalcemia and features of Bartter syndrome, including hypomagnesemia, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronemia. ", "keywords": null }, { "identifier": "Hypobetalipoproteinemia, familial, 2.", "acronym": "FHBL2.", "accession": "DI-03014", "synonyms": "Combined hypobetalipoproteinemia familial.; ", "cross_references": "MeSH; D006995.", "definition": "A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Affected individuals present with combined hypolipidemia, consisting of extremely low plasma levels of LDL cholesterol, HDL cholesterol, and triglycerides. ", "keywords": null }, { "identifier": "Hypobetalipoproteinemia, familial, 1.", "acronym": "FHBL1.", "accession": "DI-01587", "synonyms": "Acanthocytosis with hypobetalipoproteinemia.; Familial hypobetalipoproteinemia.; FHBL.; Normotriglyceridemic hypobetalipoproteinemia.; ", "cross_references": "MeSH; D006995.", "definition": "A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Clinical presentation may vary from no symptoms to severe gastrointestinal and neurological dysfunction similar to abetalipoproteinemia. ", "keywords": null }, { "identifier": "Hypoalphalipoproteinemia, primary, 2, intermediate.", "acronym": "FHA2I.", "accession": "DI-06397", "synonyms": "Hypoalphalipoproteinemia, primary, 2, autosomal dominant.; ", "cross_references": "MeSH; D052456.", "definition": "An autosomal dominant disorder of lipoprotein metabolism, biochemically characterized by partial apoA-I deficiency and reduced serum high-density lipoprotein cholesterol (HDL-C). Affected individuals have half the normal plasma apoA-I and HDL-C levels, and may develop xanthomas and corneal opacities. Most patients do not have increased cardiovascular risk. ", "keywords": null }, { "identifier": "Hypoalphalipoproteinemia, primary, 2.", "acronym": "FHA2.", "accession": "DI-05627", "synonyms": "Apolipoprotein A-I deficiency.; High density lipoprotein deficiency.; Hypoalphalipoproteinemia, primary, 2, autosomal recessive.; ", "cross_references": "MeSH; D052456.", "definition": "An autosomal recessive disorder of lipoprotein metabolism, biochemically characterized by severe apoA-I deficiency and severely reduced serum high-density lipoprotein cholesterol (HDL-C). Affected individuals have undetectable serum levels of apoA-I, and develop xanthomas and corneal opacities. The disease is generally associated with atherosclerosis and markedly increased cardiovascular risk. ", "keywords": null }, { "identifier": "Hypoalphalipoproteinemia, primary, 1.", "acronym": "FHA1.", "accession": "DI-01743", "synonyms": "Familial HDL deficiency.; Familial hypoalphalipoproteinemia.; FHA.; FHD.; HDLD2.; High density lipoprotein deficiency 2.; ", "cross_references": "MeSH; D052456.", "definition": "An autosomal dominant disorder characterized by decreased plasma high density lipoproteins, moderately low HDL cholesterol, a reduction in cellular cholesterol efflux, and susceptibility to premature coronary artery disease. ", "keywords": null }, { "identifier": "Hypervalinemia and hyperleucine-isoleucinemia.", "acronym": "HVLI.", "accession": "DI-05797", "synonyms": "Branched-chain aminotransferase deficiency.; Hypervalinemia or hyperleucine-isoleucinemia.; ", "cross_references": "MeSH; D000592.", "definition": "An autosomal recessive metabolic disorder characterized by highly elevated plasma concentrations of valine and leucine/isoleucine. Affected individuals suffer from headache and mild memory impairment. ", "keywords": null } ] }