poor metabolism of thiopurines

Summary

DOID:0080172 - poor metabolism of thiopurines

Disease Ontology Definition:An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines.

Synonyms: poor metabolism of thiopurines-1, thiopurine S-methyltransferase deficiency, TPMT deficiency

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tpmt

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012503 - thiopurine S-methyltransferase deficiency

MONDO:0012503 - thiopurine S-methyltransferase deficiency

MIM:

MIM:610460 - THIOPURINES, POOR METABOLISM OF, 1; THPM1

MIM:610460 - THIOPURINES, POOR METABOLISM OF, 1; THPM1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), inherited metabolic disorder (is_a)