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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4460&ordering=-synonyms",
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"results": [
{
"identifier": "Glycogen storage disease 0.",
"acronym": "GSD0.",
"accession": "DI-00517",
"synonyms": "Hypoglycemia with deficiency of glycogen synthetase in the liver.; Liver glycogen synthase deficiency.; ",
"cross_references": "MeSH; D006008.",
"definition": "A metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood, high blood ketones and low alanine and lactate concentrations. Although feeding relieves symptoms, it often results in postprandial hyperglycemia and hyperlactatemia. ",
"keywords": "KW-0322:Glycogen storage disease.; "
},
{
"identifier": "Dysfibrinogenemia, congenital.",
"acronym": "DYSFIBRIN.",
"accession": "DI-04218",
"synonyms": "Hypodysfibrinogenemia, congenital.; ",
"cross_references": "MeSH; D025861.",
"definition": "A disorder characterized by qualitative abnormalities (dysfibrinogenemia) of the circulating fibrinogen. Affected individuals are frequently asymptomatic, but some patients have bleeding diathesis, thromboembolic complications, or both. In some cases, dysfibrinogenemia is associated with low circulating fibrinogen levels (hypodysfibrinogenemia). ",
"keywords": null
},
{
"identifier": "Tooth agenesis, selective, X-linked, 1.",
"acronym": "STHAGX1.",
"accession": "DI-01788",
"synonyms": "Hypodontia/oligodontia X-linked 1.; ",
"cross_references": "MeSH; D000848.",
"definition": "A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). ",
"keywords": null
},
{
"identifier": "Anemia, hypochromic microcytic, with iron overload 1.",
"acronym": "AHMIO1.",
"accession": "DI-01787",
"synonyms": "Hypochromic microcytic anemia.; ",
"cross_references": "MeSH; D000747.",
"definition": "A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size. The disorder is due to an error of iron metabolism that results in high serum iron, massive hepatic iron deposition, and absence of sideroblasts and stainable bone marrow iron store. Despite adequate transferrin-iron complex, delivery of iron to the erythroid bone marrow is apparently insufficient for the demands of hemoglobin synthesis. ",
"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": "N-acetylaspartate deficiency.",
"acronym": "NACED.",
"accession": "DI-03149",
"synonyms": "Hypoacetylaspartia.; NAA deficiency.; ",
"cross_references": "MeSH; D000592.",
"definition": "A metabolic disorder resulting in truncal ataxia, marked developmental delay, seizures, and secondary microcephaly. ",
"keywords": null
},
{
"identifier": "Hypertryptophanemia.",
"acronym": "HYPTRP.",
"accession": "DI-05124",
"synonyms": "Hypertryptophanemia, familial.; ",
"cross_references": "MeSH; D000592.",
"definition": "An autosomal recessive condition characterized by persistent hypertryptophanemia and hyperserotoninemia. ",
"keywords": null
},
{
"identifier": "PHOAR2-enteropathy syndrome.",
"acronym": "PHOAR2E.",
"accession": "DI-03345",
"synonyms": "Hypertrophic osteoarthropathy, primary, autosomal recessive, 2.; Hypertrophic osteoarthropathy, primary, autosomal recessive, 2/enteropathy syndrome.; Pachydermoperiostosis, autosomal recessive.; PDP, autosomal recessive.; PHOAR2.; ",
"cross_references": "MeSH; D010004.",
"definition": "An autosomal recessive disease characterized by primary hypertrophic osteoarthropathy and/or chronic non-specific ulcers of the small intestine. Affected individuals present with digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. Chronic ulcers of the small intestine result in abdominal pain and watery diarrhea, and are associated with chronic anemia. Other developmental anomalies include delayed closure of the cranial sutures and congenital heart disease. ",
"keywords": null
},
{
"identifier": "Hypertriglyceridemia 1.",
"acronym": "HYTG1.",
"accession": "DI-01586",
"synonyms": "Hypertriglyceridemia, familial.; ",
"cross_references": "MeSH; D006953.",
"definition": "A common inherited disorder in which the concentration of very low density lipoprotein (VLDL) is elevated in the plasma. This leads to increased risk of heart disease, obesity, and pancreatitis. Inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Sarcosinemia.",
"acronym": "SARCOS.",
"accession": "DI-02279",
"synonyms": "Hypersarcosinemia.; Sarcosine dehydrogenase complex deficiency.; SARD deficiency.; SARDHD.; SARDH deficiency.; ",
"cross_references": "MeSH; D000592.",
"definition": "A metabolic disorder characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosinemia is most probably a benign condition without significant clinical problems. Some reports have associated sarcosinemia with intellectual disability and neurologic problems. ",
"keywords": null
},
{
"identifier": "Malignant hyperthermia 1.",
"acronym": "MHS1.",
"accession": "DI-01929",
"synonyms": "Hyperpyrexia, malignant.; Hyperthermia of anesthesia.; MH.; ",
"cross_references": "MeSH; D008305.",
"definition": "Autosomal dominant pharmacogenetic disorder of skeletal muscle and is one of the main causes of death due to anesthesia. In susceptible people, an MH episode can be triggered by all commonly used inhalational anesthetics such as halothane and by depolarizing muscle relaxants such as succinylcholine. The clinical features of the myopathy are hyperthermia, accelerated muscle metabolism, contractures, metabolic acidosis, tachycardia and death, if not treated with the postsynaptic muscle relaxant, dantrolene. Susceptibility to MH can be determined with the 'in vitro' contracture test (IVCT): observing the magnitude of contractures induced in strips of muscle tissue by caffeine alone and halothane alone. Patients with normal response are MH normal (MHN), those with abnormal response to caffeine alone or halothane alone are MH equivocal (MHE(C) and MHE(H) respectively). ",
"keywords": null
},
{
"identifier": "Catel-Manzke syndrome.",
"acronym": "CATMANS.",
"accession": "DI-04301",
"synonyms": "Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome.; Index finger anomaly with Pierre Robin syndrome.; Micrognathia digital syndrome.; Palatodigital syndrome, Catel-Manzke type.; Pierre Robin syndrome with hyperphalangy and clinodactyly.; ",
"cross_references": "MeSH; D010855.",
"definition": "A syndrome characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). ",
"keywords": null
},
{
"identifier": "Hyperoxaluria primary 3.",
"acronym": "HP3.",
"accession": "DI-02917",
"synonyms": "Hyperoxaluria non-HP1/non-HP2.; Hyperoxaluria non-PH I/PH II form.; Hyperoxaluria primary type III.; ",
"cross_references": "MeSH; D006960.",
"definition": "A disorder phenotypically similar to hyperoxaluria type 1 and type 2. It is characterized by increase in urinary oxalate excretion and mild glycolic aciduria. Clinical manifestations include calcium oxalate urolithiasis, hematuria, pain, and/or urinary tract infection. ",
"keywords": null
},
{
"identifier": "Osteopathia striata with cranial sclerosis.",
"acronym": "OSCS.",
"accession": "DI-02547",
"synonyms": "Hyperostosis generalisata with striations.; Robinow-Unger syndrome.; ",
"cross_references": "MeSH; D010026.",
"definition": "An X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, facial palsy, conductive hearing loss, mild learning disabilities, sclerosis of the long bones and skull. Longitudinal striations are visible on radiographs of the long bones, pelvis, and scapulae (osteopathia striata). In males this entity is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations. ",
"keywords": null
},
{
"identifier": "Glycine N-methyltransferase deficiency.",
"acronym": "GNMT deficiency.",
"accession": "DI-01680",
"synonyms": "Hypermethioninemia.; ",
"cross_references": "MedGen; C1847720.",
"definition": "The only clinical abnormalities in patients with this deficiency are mild hepatomegaly and chronic elevation of serum transaminases. ",
"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 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": "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": "Immunodeficiency with hyper-IgM 5.",
"acronym": "HIGM5.",
"accession": "DI-01812",
"synonyms": "Hyper-IgM immunodeficiency type 5.; Hyper-IgM syndrome 5.; ",
"cross_references": "MeSH; D053306.",
"definition": "A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections. ",
"keywords": null
},
{
"identifier": "Immunodeficiency with hyper-IgM 3.",
"acronym": "HIGM3.",
"accession": "DI-01763",
"synonyms": "Hyper-IgM immunodeficiency type 3.; Hyper-IgM syndrome 3.; ",
"cross_references": "MeSH; D053306.",
"definition": "A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections. ",
"keywords": null
}
]
}