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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2060&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2020&ordering=synonyms",
"results": [
{
"identifier": "Anterior segment dysgenesis 3.",
"acronym": "ASGD3.",
"accession": "DI-01832",
"synonyms": "Glaucoma iridogoniodysplasia, familial.; IGDA.; Irid1.; Iridogoniodysgenesis, type 1.; Iridogoniodysgenesis anomaly.; Iridogoniodysgenesis anomaly, autosomal dominant.; Iris hypoplasia with glaucoma.; ",
"cross_references": "MeSH; D005124.",
"definition": "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD3 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "White-Kernohan syndrome.",
"acronym": "WHIKERS.",
"accession": "DI-06165",
"synonyms": "Global developmental delay, hypotonia, and characteristic facial features.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, variably impaired intellectual development, hypotonia, and characteristic facial features. Some patients may have genitourinary and skeletal abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Spermatogenic failure 9.",
"acronym": "SPGF9.",
"accession": "DI-03123",
"synonyms": "Globozoospermia complete.; Globozoospermia total.; ",
"cross_references": "MeSH; D007248.",
"definition": "An infertility disorder caused by spermatogenesis defects. The most prominent feature is the malformation of the acrosome, which can be totally absent in most severe cases. Additional features are an abnormal nuclear shape and abnormal arrangement of the mitochondria of the spermatozoon. ",
"keywords": null
},
{
"identifier": "Focal segmental glomerulosclerosis 10.",
"acronym": "FSGS10.",
"accession": "DI-05975",
"synonyms": "Glomerular basement membrane disease, nail-patella syndrome type.; Nail-patella-like renal disease.; NPLRD.; ",
"cross_references": "MeSH; D005923.",
"definition": "An autosomal dominant form of focal segmental glomerulosclerosis, a renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. ",
"keywords": null
},
{
"identifier": "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome.",
"acronym": "HLTRS.",
"accession": "DI-04465",
"synonyms": "Glomerulonephritis with sparse hair and telangiectases.; Telangiectatic membranoproliferative glomerulonephritis.; ",
"cross_references": "MeSH; D013684.",
"definition": "A syndrome characterized by sparse hair, lymphatic edemas, peripheral vein anomalies, and renal disease. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Focal segmental glomerulosclerosis 9.",
"acronym": "FSGS9.",
"accession": "DI-04326",
"synonyms": "Glomerulosclerosis, focal segmental, 9.; ",
"cross_references": "MeSH; D005923.",
"definition": "A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. ",
"keywords": null
},
{
"identifier": "Global developmental delay, lung cysts, overgrowth, and Wilms tumor.",
"acronym": "GLOW.",
"accession": "DI-05455",
"synonyms": "GLOW syndrome.; ",
"cross_references": "MeSH; D009396.",
"definition": "A disease characterized by the association of congenital nephromegaly, bilateral Wilms tumor, somatic overgrowth, developmental delay, macrocephaly, and bilateral lung cysts. ",
"keywords": null
},
{
"identifier": "Glycogen storage disease 1A.",
"acronym": "GSD1A.",
"accession": "DI-00518",
"synonyms": "Glucose-6-phosphatase deficiency.; Glycogen storage disease Ia.; GSD-Ia.; Hepatorenal form of glycogen storage disease.; Hepatorenal glycogenosis.; von Gierke disease.; ",
"cross_references": "MeSH; D005953.",
"definition": "A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. ",
"keywords": "KW-0322:Glycogen storage disease.; "
},
{
"identifier": "Glycogen storage disease 1B.",
"acronym": "GSD1B.",
"accession": "DI-00519",
"synonyms": "Glucose-6-phosphate transport defect.; Glycogen storage disease Ib.; GSD Ib.; GSD-Ib.; ",
"cross_references": "MeSH; D005953.",
"definition": "A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. Glycogen storage disease type 1B patients also present a tendency towards infections associated with neutropenia, relapsing aphthous gingivostomatitis, and inflammatory bowel disease. ",
"keywords": "KW-0322:Glycogen storage disease.; "
},
{
"identifier": "Type IIb congenital disorder of glycosylation.",
"acronym": "CDGIIb.",
"accession": "DI-02399",
"synonyms": "Glucosidase I deficiency.; ",
"cross_references": "MedGen; C1853736.",
"definition": "Characterized by marked generalized hypotonia and hypomotility of the neonate, dysmorphic features, including a prominent occiput, short palpebral fissures, retrognathia, high arched palate, generalized edema, and hypoplastic genitalia. Symptoms of the infant included hepatomegaly, hypoventilation, feeding problems and seizures. The clinical course was progressive and the infant did not survive more than a few months. ",
"keywords": null
},
{
"identifier": "Renal glucosuria.",
"acronym": "GLYS.",
"accession": "DI-02255",
"synonyms": "Glucosuria, renal.; GLYS1.; ",
"cross_references": "MeSH; D006030.",
"definition": "A disorder characterized by persistent isolated glucosuria, normal fasting serum glucose concentration, decreased renal tubular resorption of glucose from the urine, and absence of any other signs of tubular dysfunction. ",
"keywords": null
},
{
"identifier": "Stomatin-deficient cryohydrocytosis with neurologic defects.",
"acronym": "SDCHCN.",
"accession": "DI-04611",
"synonyms": "GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis.; ",
"cross_references": "MeSH; D000745.",
"definition": "A rare form of stomatocytosis characterized by episodic hemolytic anemia, cold-induced red cells cation leak, erratic hyperkalemia, neonatal hyperbilirubinemia, hepatosplenomegaly, cataracts, seizures, intellectual disability, and movement disorder. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; KW-0887:Epilepsy.; KW-0898:Cataract.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Dicarboxylic aminoaciduria.",
"acronym": "DCBXA.",
"accession": "DI-04231",
"synonyms": "Glutamate-aspartate transport defect.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by abnormal excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. It can be associated with intellectual disability. ",
"keywords": null
},
{
"identifier": "Global developmental delay, progressive ataxia, and elevated glutamine.",
"acronym": "GDPAG.",
"accession": "DI-05561",
"synonyms": "Glutaminase deficiency with impaired intellectual development and progressive ataxia.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disease characterized by early-onset delay in motor skills, delayed speech, progressive ataxia, and neurologic deterioration. Plasma glutamine is persistently elevated by a factor of 2.5 despite normal plasma ammonia levels. ",
"keywords": null
},
{
"identifier": "Glutamine deficiency, congenital.",
"acronym": "GLND.",
"accession": "DI-01420",
"synonyms": "Glutamine synthase deficiency, congenital systemic.; ",
"cross_references": "MeSH; D000592.",
"definition": "An autosomal recessive disorder characterized by variable brain malformations, encephalopathy, severe developmental delay, seizures, and decreased glutamine levels in bodily fluids. Death in early infancy may occur. ",
"keywords": null
},
{
"identifier": "Celiac disease 13.",
"acronym": "CELIAC13.",
"accession": "DI-02885",
"synonyms": "Gluten-sensitive enteropathy 13.; ",
"cross_references": "MeSH; D002446.",
"definition": "A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten- containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. ",
"keywords": null
},
{
"identifier": "Celiac disease 3.",
"acronym": "CELIAC3.",
"accession": "DI-02883",
"synonyms": "Gluten-sensitive enteropathy 3.; ",
"cross_references": "MeSH; D002446.",
"definition": "A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten- containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. ",
"keywords": null
},
{
"identifier": "Celiac disease 4.",
"acronym": "CELIAC4.",
"accession": "DI-02884",
"synonyms": "Gluten-sensitive enteropathy 4.; ",
"cross_references": "MeSH; D002446.",
"definition": "A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten- containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. ",
"keywords": null
},
{
"identifier": "Hyperglycinuria.",
"acronym": "HGLY.",
"accession": "DI-02939",
"synonyms": "Glycinuria with or without oxalate nephrolithiasis.; Glycinuria with or without oxalate urolithiasis.; Iminoglycinuria type II.; ",
"cross_references": "MeSH; D000608.",
"definition": "A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. ",
"keywords": null
},
{
"identifier": "Glycogen storage disease 15.",
"acronym": "GSD15.",
"accession": "DI-02773",
"synonyms": "Glycogenin deficiency.; Glycogen storage disease XV.; GSD XV.; GYG1 deficiency.; ",
"cross_references": "MeSH; D006008.",
"definition": "A metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation. ",
"keywords": "KW-0322:Glycogen storage disease.; "
}
]
}