Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
hyperinsulinemic hypoglycemia	DOID_13317	[A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.]
progressive familial intrahepatic cholestasis	DOID_0070221	[An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.]
intrahepatic cholestasis	DOID_1852
intrahepatic cholestasis of pregnancy 1	DOID_0070228	[An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21.]
intrahepatic cholestasis of pregnancy	DOID_0070227	[An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery.]
intrahepatic cholestasis of pregnancy 3	DOID_0070229	[An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.]
progressive familial intrahepatic cholestasis 1	DOID_0070226	[A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21.]
progressive familial intrahepatic cholestasis 4	DOID_0070224	[A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21.]
progressive familial intrahepatic cholestasis 5	DOID_0070225	[A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q.]
progressive familial intrahepatic cholestasis 2	DOID_0070222	[A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31.]
progressive familial intrahepatic cholestasis 3	DOID_0070223	[A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12.]
pyrrolidinecarboxamide	CHEBI_46770
pyrrolidines	CHEBI_38260	[Any of a class of heterocyclic amines having a saturated five-membered ring.]
rete ovarii	UBERON_0010185
benign recurrent intrahepatic cholestasis 1	DOID_0070231	[A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q.]
benign recurrent intrahepatic cholestasis	DOID_0070230	[An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction.]
benign recurrent intrahepatic cholestasis 2	DOID_0070232	[A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31.]
Petrosaviidae	NCBITaxon_1437197
primary coenzyme Q10 deficiency 2	DOID_0070239	[A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of PDSS1 on chromosome 10p12.1.]
Loeys-Dietz syndrome 3	DOID_0070237	[A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q.]