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Summary Literature (0)
DOID:0080172 - thiopurine S-methyltransferase deficiency


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: TPMT deficiency, poor metabolism of thiopurines-1

In OMIM:
OMIM:610460 - THIOPURINES, POOR METABOLISM OF, 1; THPM1

In Mondo Disease Ontology:
MONDO:0012503 - thiopurine S-methyltransferase deficiency

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : tpmt

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): inherited metabolic disorder (is_a)