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Human Disease

thiopurine S-methyltransferase deficiency

Term ID
DOID:0080172
Synonyms
  • poor metabolism of thiopurines-1
  • TPMT 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
References
Ontology
Human Disease   ( DOID:0080172 )
Relationships
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Genes Involved
Zebrafish Models
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