Human Disease List
GET /api/human_diseases/?format=api&offset=3920&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3940&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3900&ordering=-identifier", "results": [ { "identifier": "Hypercholesterolemia, familial, 4.", "acronym": "FHCL4.", "accession": "DI-01242", "synonyms": "ARH.; ARH1.; ARH2.; Autosomal recessive hypercholesterolemia 1.; Autosomal recessive hypercholesterolemia 2.; FHCB1.; FHCB2.; Hypercholesterolemia, autosomal recessive.; ", "cross_references": "MeSH; D006937.", "definition": "A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL4 inheritance is autosomal recessive. ", "keywords": null }, { "identifier": "Hypercholesterolemia, familial, 3.", "acronym": "FHCL3.", "accession": "DI-01578", "synonyms": "HCHOLA3.; Hypercholesterolemia, autosomal dominant, 3.; ", "cross_references": "MeSH; D006937.", "definition": "A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL3 inheritance is autosomal dominant. ", "keywords": null }, { "identifier": "Hypercholesterolemia, familial, 2.", "acronym": "FHCL2.", "accession": "DI-01591", "synonyms": "Familial ligand-defective apolipoprotein B-100.; FDB.; ", "cross_references": "MeSH; D006938.", "definition": "A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL2 inheritance is autosomal dominant. ", "keywords": null }, { "identifier": "Hypercholesterolemia, familial, 1.", "acronym": "FHCL1.", "accession": "DI-01577", "synonyms": "FH.; FHC.; Hypercholesterolemic xanthomatosis, familial.; Hyperlipoproteinemia, type II.; Hyperlipoproteinemia, type IIA.; Hyper-low-density-lipoproteinemia.; LDL receptor disorder.; ", "cross_references": "MeSH; D006938.", "definition": "A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL1 inheritance is autosomal dominant. ", "keywords": null }, { "identifier": "Hypercholanemia, familial, 2.", "acronym": "FHCA2.", "accession": "DI-06067", "synonyms": "NTCPD.; NTCP deficiency.; ", "cross_references": "MeSH; D043202.", "definition": "An autosomal recessive inborn error of metabolism characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy, fat malabsorption and impaired absorption of fat-soluble vitamins, including D and K. Most patients are asymptomatic. Some neonates may have transient jaundice or transiently elevated liver enzymes. ", "keywords": null }, { "identifier": "Hypercholanemia, familial, 1.", "acronym": "FHCA1.", "accession": "DI-00492", "synonyms": "Bile acid, elevated serum.; ", "cross_references": "MeSH; D008286.", "definition": "A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. ", "keywords": null }, { "identifier": "Hyperchlorhidrosis, isolated.", "acronym": "HYCHL.", "accession": "DI-03013", "synonyms": null, "cross_references": "MeSH; D006945.", "definition": "An autosomal recessive disorder characterized by excessive sweating and increased sweat chloride levels. Affected individuals suffer from episodes of hyponatremic dehydration and report increased amounts of visible salt precipitates in sweat. ", "keywords": null }, { "identifier": "Hypercarotenemia and vitamin A deficiency, autosomal dominant.", "acronym": "HCVAD.", "accession": "DI-01210", "synonyms": "Hypercarotenemia and hypovitaminosis A.; ", "cross_references": "MeSH; D014802.", "definition": "A disorder characterized by increased serum beta-carotene, decreased conversion of beta-carotene to vitamin A and decreased serum vitamin A. ", "keywords": null }, { "identifier": "Hypercalciuria absorptive 2.", "acronym": "HCA2.", "accession": "DI-02646", "synonyms": "Hypercalciuria familial idiopathic.; ", "cross_references": "MeSH; D053565.", "definition": "A common type of hypercalciuria, a condition characterized by excessive urinary calcium excretion. Absorptive hypercalciuria is due to gastrointestinal hyperabsorption of calcium and is a frequent cause of calcium oxalate nephrolithiasis. ", "keywords": null }, { "identifier": "Hypercalcemia, infantile, 2.", "acronym": "HCINF2.", "accession": "DI-04726", "synonyms": null, "cross_references": "MeSH; D006934.", "definition": "An autosomal recessive form of hypercalcemia, a disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. ", "keywords": null }, { "identifier": "Hypercalcemia, infantile, 1.", "acronym": "HCINF1.", "accession": "DI-03214", "synonyms": "Hypercalcemia infantile.; Idiopathic hypercalcemia of infancy.; ", "cross_references": "MeSH; D006934.", "definition": "A disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. ", "keywords": null }, { "identifier": "Hyperbiliverdinemia.", "acronym": "HBLVD.", "accession": "DI-03209", "synonyms": "Green jaundice.; ", "cross_references": "MeSH; D002779.", "definition": "A condition characterized by a green discoloration of the skin, urine, serum, and other bodily fluids. It is due to increased biliverdin resulting from inefficient conversion to bilirubin. Affected individuals appear to have symptoms only in the context of obstructive cholestasis and/or liver failure. In some cases, green jaundice can resolve after resolution of obstructive cholestasis. ", "keywords": null }, { "identifier": "Hyperbilirubinemia, Rotor type.", "acronym": "HBLRR.", "accession": "DI-03360", "synonyms": "Rotor syndrome.; ", "cross_references": "MeSH; D006932.", "definition": "An autosomal recessive form of primary conjugated hyperbilirubinemia. Affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. They have delayed plasma clearance of the unconjugated anionic dye bromsulphthalein and prominent urinary excretion of coproporphyrin I. Hepatic pigmentation is normal. ", "keywords": null }, { "identifier": "Hyperammonemia due to carbonic anhydrase VA deficiency.", "acronym": "CA5AD.", "accession": "DI-04105", "synonyms": null, "cross_references": "MeSH; D022124.", "definition": "An autosomal recessive inborn error of metabolism, clinically characterized by infantile hyperammonemic encephalopathy. Metabolic abnormalities include hypoglycemia, hyperlactatemia, metabolic acidosis and respiratory alkalosis. ", "keywords": null }, { "identifier": "Hyperalphalipoproteinemia 2.", "acronym": "HALP2.", "accession": "DI-03115", "synonyms": "Apolipoprotein C-III deficiency.; ", "cross_references": "MeSH; D006951.", "definition": "A condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels. ", "keywords": null }, { "identifier": "Hyperalphalipoproteinemia 1.", "acronym": "HALP1.", "accession": "DI-01764", "synonyms": "CETP deficiency.; Cholesteryl ester transfer protein deficiency.; ", "cross_references": "MeSH; D006951.", "definition": "A condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels. ", "keywords": null }, { "identifier": "Hyperaldosteronism, familial, 4.", "acronym": "HALD4.", "accession": "DI-04759", "synonyms": "FH IV.; Hyperaldosteronism, familial, type IV.; Primary aldosteronism and hypertension.; ", "cross_references": "MeSH; D006929.", "definition": "A form of familial hyperaldosteronism, a disorder characterized by hypertension, elevated aldosterone levels despite low plasma renin activity, and abnormal adrenal steroid production. There is significant phenotypic heterogeneity, and some individuals never develop hypertension. ", "keywords": null }, { "identifier": "Hyperaldosteronism, familial, 3.", "acronym": "HALD3.", "accession": "DI-03198", "synonyms": "Familial hyperaldosteronism 3.; Familial hyperaldosteronism type III.; FH3.; FH III.; FH type III.; ", "cross_references": "MeSH; D006929.", "definition": "A form of hyperaldosteronism characterized by hypertension secondary to massive adrenal mineralocorticoid production. HALD3 patients present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18- hydroxycortisol. Hypertension and aldosteronism are not reversed by administration of exogenous glucocorticoids and patients require adrenalectomy to control hypertension. ", "keywords": null }, { "identifier": "Hyperaldosteronism, familial, 2.", "acronym": "HALD2.", "accession": "DI-05322", "synonyms": "FH II.; FH-II.; Hyperaldosteronism, familial, type II.; ", "cross_references": "MeSH; D006929.", "definition": "An autosomal dominant disorder characterized by elevated plasma aldosterone level and hypertension of varying severity even within members of the same family. Hypokalemia is observed in some patients. In HALD2, hypertension does not improve with glucocorticoid treatment. ", "keywords": null }, { "identifier": "Hyperaldosteronism, familial, 1.", "acronym": "HALD1.", "accession": "DI-02693", "synonyms": "ACTH-dependent hyperaldosteronism syndrome.; Aldosteronism sensitive to dexamethasone.; Dexamethasone sensitive hypertension.; Familial hyperaldosteronism 1.; Familial hyperaldosteronism type I.; FH1.; FH I.; FH type 1.; Glucocorticoid-remediable aldosteronism.; Glucocorticoid sensitive hypertension.; Glucocorticoid-suppressible hyperaldosteronism.; GRA.; GSH.; ", "cross_references": "MeSH; D006929.", "definition": "A disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension. ", "keywords": null } ] }