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"count": 6723,
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"results": [
{
"identifier": "Hydrolethalus syndrome 2.",
"acronym": "HLS2.",
"accession": "DI-03208",
"synonyms": null,
"cross_references": "MeSH; D006849.",
"definition": "An embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Hydrops, lactic acidosis, and sideroblastic anemia.",
"acronym": "HLASA.",
"accession": "DI-04765",
"synonyms": null,
"cross_references": "MeSH; D008659.",
"definition": "A lethal, multisystem metabolic disorder characterized by severe lactic acidosis, hydrops, and sideroblastic anemia. Additional features include impaired cardiac function, disordered coagulation, pulmonary hypertension, and progressive renal disease. ",
"keywords": null
},
{
"identifier": "Hydroxykynureninuria.",
"acronym": "HYXKY.",
"accession": "DI-04276",
"synonyms": "Partial kynureninase deficiency.; Xanthurenic aciduria.; ",
"cross_references": "MeSH; D000592.",
"definition": "An inborn error of amino acid metabolism characterized by massive urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine and xanthurenic acid. Affected individuals manifest renal tubular dysfunction, metabolic acidosis, psychomotor retardation, non- progressive encephalopathy, and muscular hypertonia. ",
"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
},
{
"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, 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, 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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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
}
]
}