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thiopurine S-methyltransferase deficiency

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description An acquired metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity.
Disease Ontology Description An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines.
Mondo Term and Equivalent IDs
MONDO:0012503:  thiopurine S-methyltransferase deficiency
GARD:0005173: 
MESH:C536512: 
NCIT:C4389: 
Orphanet:3315: 
SCTID:238012003: