Human Disease List
GET /api/human_diseases/?format=api&offset=4180&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4200&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4160&ordering=-identifier", "results": [ { "identifier": "Glutaric aciduria 2C.", "acronym": "GA2C.", "accession": "DI-00515", "synonyms": "EMA.; ETFDH deficiency.; Ethylmalonic-adipicaciduria.; GAIIC.; Glutaricaciduria IIC.; MADD.; Multiple acyl-CoA dehydrogenase deficiency.; ", "cross_references": "MeSH; D054069.", "definition": "An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. ", "keywords": "KW-0316:Glutaricaciduria.; " }, { "identifier": "Glutaric aciduria 2B.", "acronym": "GA2B.", "accession": "DI-00514", "synonyms": "EMA.; ETFB deficiency.; Ethylmalonic-adipicaciduria.; GAIIB.; Glutaricaciduria IIB.; MADD.; Multiple acyl-CoA dehydrogenase deficiency.; ", "cross_references": "MeSH; D054069.", "definition": "An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. ", "keywords": "KW-0316:Glutaricaciduria.; " }, { "identifier": "Glutaric aciduria 2A.", "acronym": "GA2A.", "accession": "DI-00513", "synonyms": "EMA.; ETFA deficiency.; Ethylmalonic-adipicaciduria.; GAIIA.; Glutaricaciduria IIA.; MADD.; Multiple acyl-CoA dehydrogenase deficiency.; ", "cross_references": "MeSH; D054069.", "definition": "An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. ", "keywords": "KW-0316:Glutaricaciduria.; " }, { "identifier": "Glutaric aciduria 1.", "acronym": "GA1.", "accession": "DI-00512", "synonyms": "GA-I.; Glutaric acidemia type I.; Glutaryl-CoA dehydrogenase deficiency.; ", "cross_references": "MeSH; D001928.", "definition": "An autosomal recessive metabolic disorder characterized by progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia. ", "keywords": "KW-0316:Glutaricaciduria.; " }, { "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": "Glutamate formiminotransferase deficiency.", "acronym": "FIGLU-URIA.", "accession": "DI-01672", "synonyms": "Formiminoglutamicaciduria.; Formiminoglutamic aciduria.; Formiminotransferase deficiency.; ", "cross_references": "MedGen; C0268609.", "definition": "Autosomal recessive disorder. Features of a severe phenotype, include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and intellectual disability. Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematological abnormalities. ", "keywords": null }, { "identifier": "GLUT1 deficiency syndrome 2.", "acronym": "GLUT1DS2.", "accession": "DI-00421", "synonyms": "Dystonia 18.; Dystonia-18.; DYT18.; Paroxysmal exercise-induced dystonia.; Paroxysmal exercise-induced dystonia with or without epilepsy and/or hemolytic anemia.; Paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia.; PED with or without epilepsy and/or hemolytic anemia.; ", "cross_references": "MeSH; D004421.", "definition": "A clinically variable disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia involves transient abnormal involuntary movements, such as dystonia and choreoathetosis, induced by exercise or exertion, and affecting the exercised limbs. Some patients may also have epilepsy, most commonly childhood absence epilepsy. Mild intellectual disability may also occur. In some patients involuntary exertion-induced dystonic, choreoathetotic, and ballistic movements may be associated with macrocytic hemolytic anemia. ", "keywords": "KW-1023:Dystonia.; " }, { "identifier": "GLUT1 deficiency syndrome 1.", "acronym": "GLUT1DS1.", "accession": "DI-01209", "synonyms": "Blood-brain barrier glucose transport defect.; Encephalopathy due to GLUT1 deficiency.; GLUT1 deficiency.; GLUT-1 deficiency syndrome.; GLUT1 deficiency syndrome autosomal recessive.; ", "cross_references": "MeSH; D001927.", "definition": "A neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe intellectual disability. ", "keywords": "KW-0887:Epilepsy.; " }, { "identifier": "Glucocorticoid resistance, generalized.", "acronym": "GCCR.", "accession": "DI-04226", "synonyms": "Chrousos syndrome.; Cortisol resistance from glucocorticoid receptor defect.; GCCR deficiency.; GCR deficiency.; Glucocorticoid receptor deficiency.; GRL deficiency.; ", "cross_references": "MeSH; D008661.", "definition": "An autosomal dominant disease characterized by increased plasma cortisol concentration and high urinary free cortisol, resistance to adrenal suppression by dexamethasone, and the absence of Cushing syndrome typical signs. Clinical features include hypoglycemia, hypertension, metabolic alkalosis, chronic fatigue and profound anxiety. ", "keywords": null }, { "identifier": "Glucocorticoid resistance.", "acronym": "GCRES.", "accession": "DI-01671", "synonyms": "Cortisol resistance.; ", "cross_references": "MedGen; C1841982.", "definition": "Hypertensive, hyperandrogenic disorder characterized by increased serum cortisol concentrations. Inheritance is autosomal dominant. ", "keywords": null }, { "identifier": "Glucocorticoid deficiency 5.", "acronym": "GCCD5.", "accession": "DI-05165", "synonyms": null, "cross_references": "MeSH; D000309.", "definition": "A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. ", "keywords": null }, { "identifier": "Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency.", "acronym": "GCCD4.", "accession": "DI-03501", "synonyms": "Familial glucocorticoid deficiency 4.; FGD4.; ", "cross_references": "MeSH; D000309.", "definition": "A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. ", "keywords": null }, { "identifier": "Glucocorticoid deficiency 2.", "acronym": "GCCD2.", "accession": "DI-01670", "synonyms": "Familial glucocorticoid deficiency 2.; FGD2.; ", "cross_references": "MeSH; D000309.", "definition": "A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. ", "keywords": null }, { "identifier": "Glucocorticoid deficiency 1.", "acronym": "GCCD1.", "accession": "DI-01669", "synonyms": "ACTH resistance.; Adrenal unresponsiveness to ACTH.; Familial glucocorticoid deficiency 1.; FGD1.; Hereditary unresponsiveness to adrenocorticotropic hormone.; Isolated glucocorticoid deficiency.; ", "cross_references": "MeSH; D000309.", "definition": "A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. ", "keywords": null }, { "identifier": "Glomuvenous malformations.", "acronym": "GVMs.", "accession": "DI-01668", "synonyms": null, "cross_references": "MedGen; C1841984.", "definition": "Characterized by the presence of smooth-muscle-like glomus cells in the media surrounding distended vascular lumens. ", "keywords": null }, { "identifier": "Glomerulopathy with fibronectin deposits 2.", "acronym": "GFND2.", "accession": "DI-01667", "synonyms": "Familial glomerular nephritis with fibronectin deposits.; Fibronectin glomerulopathy.; ", "cross_references": "MedGen; C1866075.", "definition": "Genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. ", "keywords": null }, { "identifier": "Global developmental delay with speech and behavioral abnormalities.", "acronym": "GDSBA.", "accession": "DI-06063", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal dominant disorder manifesting in infancy or early childhood. It is characterized by mildly delayed fine and motor skills, mildly impaired intellectual development, speech and language delay, and variable behavioral abnormalities, mostly autism and attention deficit-hyperactivity disorder. Additional non-specific features include facial dysmorphism, myopia or strabismus, and skeletal defects. ", "keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; " }, { "identifier": "Global developmental delay with or without impaired intellectual development.", "acronym": "GDDI.", "accession": "DI-05485", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal dominant disorder characterized by global developmental delay associated with mild-to-moderate intellectual disability, hypotonia and short stature in some patients. ", "keywords": "KW-0991:Intellectual disability.; " }, { "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": "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 } ] }