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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2840&ordering=identifier",
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"results": [
{
"identifier": "Hyperimmunoglobulinemia D and periodic fever syndrome.",
"acronym": "HIDS.",
"accession": "DI-01768",
"synonyms": null,
"cross_references": "MedGen; C0398691.",
"definition": "Autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), arthralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal. ",
"keywords": null
},
{
"identifier": "Hyperinsulinemic hypoglycemia, familial, 1.",
"acronym": "HHF1.",
"accession": "DI-01579",
"synonyms": "Congenital hyperinsulinism.; Hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia.; Hyperinsulinemic hypoglycemia of infancy.; Hyperinsulinism, congenital.; Hyperinsulinism, familial, with pancreatic nesidioblastosis.; Nesidioblastosis of pancreas.; Persistent hyperinsulinemic hypoglycemia of infancy.; PHHI.; ",
"cross_references": "MeSH; D044903.",
"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. HHF1 is the most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF1 inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": null
},
{
"identifier": "Hyperinsulinemic hypoglycemia, familial, 2.",
"acronym": "HHF2.",
"accession": "DI-01580",
"synonyms": "Congenital hyperinsulinism.; Hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia.; Hyperinsulinism, congenital.; Hyperinsulinism, neonatal.; Nesidioblastosis.; Persistent hyperinsulinemic hypoglycemia of infancy.; PHHI.; ",
"cross_references": "MeSH; D044903.",
"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. HHF2 is a common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF2 inheritance can be autosomal dominant or 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
},
{
"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, 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, 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, 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, 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": "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": "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": "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": "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 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 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 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": "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": "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": "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": "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
}
]
}