Human Disease List
GET /api/human_diseases/?format=api&offset=3880&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3900&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3860&ordering=-identifier", "results": [ { "identifier": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.", "acronym": "HHHS.", "accession": "DI-01776", "synonyms": "HHH syndrome.; Ornithine translocase deficiency.; ", "cross_references": "MeSH; D056806.", "definition": "An autosomal recessive disorder of the urea cycle characterized by onset in early life. The acute phase of the disease is characterized by vomiting, ataxia, lethargy, confusion, and coma. Chronic clinical manifestations include hypotonia, developmental delay, progressive encephalopathy with mental regression, and spastic paraparesis with pyramidal signs. ", "keywords": null }, { "identifier": "Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency.", "acronym": "HMAHCHD.", "accession": "DI-01774", "synonyms": null, "cross_references": "MeSH; D000592.", "definition": "A metabolic disorder characterized by hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy. ", "keywords": null }, { "identifier": "Hypermethioninemia due to adenosine kinase deficiency.", "acronym": "HMAKD.", "accession": "DI-03295", "synonyms": "MRT8.; ", "cross_references": "MeSH; D000592.", "definition": "A metabolic disorder characterized by global developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine. Homocysteine levels are typically normal. ", "keywords": null }, { "identifier": "Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2.", "acronym": "HUMOP2.", "accession": "DI-06541", "synonyms": null, "cross_references": "MeSH; D008659.", "definition": "A disorder apparent in infancy and characterized by euthyroid hypermetabolism, failure to thrive despite excessive caloric intake, intermittent hyperthermia, and developmental delay. ", "keywords": null }, { "identifier": "Hypermanganesemia with dystonia 2.", "acronym": "HMNDYT2.", "accession": "DI-04753", "synonyms": null, "cross_references": "MeSH; D008659.", "definition": "A metabolic autosomal recessive disorder characterized by increased blood manganese levels, neurodegeneration, and rapidly progressive parkinsonism and dystonia. Affected individuals present with loss of developmental milestones, progressive dystonia and bulbar dysfunction in infancy or early childhood. Towards the end of the first decade, they manifest severe generalized pharmacoresistant dystonia, spasticity, limb contractures and scoliosis, and loss of independent ambulation. Cognition may be impaired, but is better preserved than motor function. ", "keywords": "KW-0523:Neurodegeneration.; KW-0908:Parkinsonism.; KW-1023:Dystonia.; " }, { "identifier": "Hypermanganesemia with dystonia 1.", "acronym": "HMNDYT1.", "accession": "DI-04212", "synonyms": "HMDPC.; Hypermanganesemia with dystonia, polycythemia, and cirrhosis.; ", "cross_references": "MeSH; D008659.", "definition": "A metabolic autosomal recessive disorder characterized by dystonia, parkinsonism, extrapyramidal signs, severe hypermanganesemia, polycythemia, and chronic hepatic disease, including steatosis and cirrhosis. ", "keywords": "KW-0523:Neurodegeneration.; KW-0908:Parkinsonism.; KW-1023:Dystonia.; " }, { "identifier": "Hyperlysinemia, 1.", "acronym": "HYPLYS1.", "accession": "DI-01773", "synonyms": "Alpha-aminoadipic semialdehyde synthase deficiency.; Hyperlysinemia type I.; L-lysine:NAD-oxido-reductase deficiency.; Lysine:alpha-ketoglutarate reductase deficiency.; Lysine intolerance.; ", "cross_references": "MeSH; D020167.", "definition": "An autosomal recessive metabolic condition with variable clinical features. Some patients present with non-specific seizures, hypotonia, or mildly delayed psychomotor development, and increased serum lysine and pipecolic acid on laboratory analysis. However, about half of the probands are reported to be asymptomatic, and hyperlysinemia is generally considered to be a benign metabolic variant. ", "keywords": null }, { "identifier": "Hyperlipoproteinemia 5.", "acronym": "HLPP5.", "accession": "DI-01772", "synonyms": "Hyperlipoproteinemia type V.; ", "cross_references": "MedGen; C3489395.", "definition": "Characterized by increased amounts of chylomicrons and very low density lipoprotein (VLDL) and decreased low density lipoprotein (LDL) and high density lipoprotein (HDL) in the plasma after a fast. Numerous conditions cause this phenotype, including insulin-dependent diabetes mellitus, contraceptive steroids, alcohol abuse, and glycogen storage disease type 1A (GSD1A). ", "keywords": null }, { "identifier": "Hyperlipoproteinemia 3.", "acronym": "HLPP3.", "accession": "DI-01771", "synonyms": "Broad beta disease.; Broad-betalipoproteinemia.; Deficiency or defect of apolipoprotein E.; Dysbetalipoproteinemia due to defect in apolipoprotein E.; Familial dysbetalipoproteinemia.; Familial hyperbeta- and prebetalipoproteinemia.; Familial hypercholesterolemia with hyperlipemia.; Floating-betalipoproteinemia.; Hyperlipemia with familial hypercholesterolemic xanthomatosis.; Hyperlipoproteinemia type III.; ", "cross_references": "MeSH; D006952.", "definition": "A disorder characterized by the accumulation of intermediate-density lipoprotein particles (IDL or broad-beta-lipoprotein) rich in cholesterol. Clinical features include xanthomas, yellowish lipid deposits in the palmar crease, or less specific on tendons and on elbows. The disorder rarely manifests before the third decade in men. In women, it is usually expressed only after the menopause. ", "keywords": null }, { "identifier": "Hyperlipoproteinemia 1D.", "acronym": "HLPP1D.", "accession": "DI-04193", "synonyms": "Hyperlipoproteinemia, type ID.; ", "cross_references": "MeSH; D008072.", "definition": "An autosomal recessive disorder characterized by hyperlipoproteinemia, decreased plasma LPL levels in some patients, high plasma triglyceride levels, and refractory fasting chylomicronemia. ", "keywords": null }, { "identifier": "Hyperlipoproteinemia 1B.", "acronym": "HLPP1B.", "accession": "DI-01770", "synonyms": "APOC2 deficiency.; Hyperlipoproteinemia type IB.; ", "cross_references": "MedGen; C1720779.", "definition": "Autosomal recessive trait characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. ", "keywords": null }, { "identifier": "Hyperlipoproteinemia 1.", "acronym": "HLPP1.", "accession": "DI-01911", "synonyms": "Chylomicronemia, familial.; Hyperchylomicronemia, familial.; Hyperlipemia, essential familial.; Hyperlipemia, idiopathic, Burger-Grutz type.; Hyperlipoproteinemia, type IA.; Lipase D deficiency.; LIPD deficiency.; Lipoprotein lipase deficiency.; LPL deficiency.; ", "cross_references": "MeSH; D006951.", "definition": "An autosomal recessive metabolic disorder characterized by defective breakdown of dietary fats, impaired clearance of chylomicrons from plasma causing the plasma to have a milky appearance, and severe hypertriglyceridemia. On a normal diet, patients often present with abdominal pain, hepatosplenomegaly, lipemia retinalis, eruptive xanthomata, and massive hypertriglyceridemia, sometimes complicated with acute pancreatitis. ", "keywords": null }, { "identifier": "Hyperlipidemia, familial combined, 3.", "acronym": "FCHL3.", "accession": "DI-05232", "synonyms": "Familial combined hyperlipidemia.; ", "cross_references": "MeSH; D006950.", "definition": "A disorder characterized by a variable pattern of elevated levels of serum total cholesterol, triglycerides or both. It is observed in a percentage of individuals with premature coronary heart disease. FCHL3 inheritance is autosomal dominant. ", "keywords": null }, { "identifier": "Hyperlipidemia, familial combined, 1.", "acronym": "FCHL1.", "accession": "DI-02816", "synonyms": "Familial combined hyperlipidemia type 1.; Hyperlipidemia combined, 1.; HYPLIP1.; ", "cross_references": "MeSH; D006950.", "definition": "A disorder characterized by a variable pattern of elevated levels of serum total cholesterol, triglycerides or both. It is observed in a percentage of individuals with premature coronary heart disease. ", "keywords": null }, { "identifier": "Hyperinsulinemic hypoglycemia, familial, 8.", "acronym": "HHF8.", "accession": "DI-06591", "synonyms": null, "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. HHF8 is an autosomal recessive form characterized by episodes of symptomatic hypoglycemia provoked by protein feeding, and persistent mild hyperammonemia. Affected children tend to have recurrent generalized seizures. ", "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": "Hyperinsulinemic hypoglycemia, familial, 6.", "acronym": "HHF6.", "accession": "DI-01769", "synonyms": "Hyperinsulinism-hyperammonemia syndrome.; ", "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. HHF6 is an autosomal dominant form characterized by hypoglycemia due to congenital hyperinsulinism combined with persistent hyperammonemia. Clinical features include loss of consciousness due to hypoglycemia, hypoglycemic seizures, and mental retardation. ", "keywords": null }, { "identifier": "Hyperinsulinemic hypoglycemia, familial, 5.", "acronym": "HHF5.", "accession": "DI-01583", "synonyms": null, "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. HHF5 clinical features include loss of consciousness due to hypoglycemia and hypoglycemic seizures. HHF5 inheritance is autosomal dominant. ", "keywords": null }, { "identifier": "Hyperinsulinemic hypoglycemia, familial, 4.", "acronym": "HHF4.", "accession": "DI-01582", "synonyms": null, "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. HHF4 clinical features include hypoglycemic coma, mental retardation due to repeated episodes of hypoglycemia, and seizures. HHF4 inheritance is autosomal recessive. ", "keywords": null }, { "identifier": "Hyperinsulinemic hypoglycemia, familial, 3.", "acronym": "HHF3.", "accession": "DI-01581", "synonyms": null, "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. HHF3 clinical features include loss of consciousness due to hypoglycemia, hypoglycemic coma, mental retardation due to repeated episodes of hypoglycemia, and seizures. HHF3 inheritance is autosomal dominant. ", "keywords": null } ] }