Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
neurogenic bowel	DOID_13419
isovaleric acidemia	DOID_14753	[An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.]
argininosuccinic aciduria	DOID_14755	[An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine.]
Crotonoideae	NCBITaxon_235631
autosomal dominant type IV Ehlers-Danlos syndrome	DOID_14756
type III Ehlers-Danlos syndrome	DOID_14757
autosomal recessive type IV Ehlers-Danlos syndrome	DOID_14759
Digenea <flatworms>	NCBITaxon_6179
diphtheritic peritonitis	DOID_13310	[A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae.]
African iron overload	DOID_0111033	[A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums.]
hemochromatosis type 2	DOID_0111034	[A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis.]
hemochromatosis type 5	DOID_0111031	[A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12.]
hemochromatosis type 2B	DOID_0111032	[A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13.]
hemochromatosis type 3	DOID_0111030	[A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22.]
exocrine pancreatic insufficiency	DOID_13316
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	DOID_0111039	[A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11.]
hypermethioninemia	DOID_0050544	[An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body.]
obsolete relapsing pancreatitis	DOID_13315
glycine N-methyltransferase deficiency	DOID_0111037	[A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21.]
pancreatic mucinous ductal ectasia	DOID_13313