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Metadata
DOID DOID:0080172
Name thiopurine S-methyltransferase deficiency
Definition An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines.
https://ghr.nlm.nih.gov/condition/thiopurine-s-methyltransferase-deficiency#statistics
Synonyms

poor metabolism of thiopurines-1 [EXACT]

TPMT deficiency [EXACT]

Xrefs

OMIM:610460

Relationships

is_a inherited metabolic disorder

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