FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term poor metabolism of thiopurines ID (Ontology) DOID:0080172 (Human Disease)
Definition An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines.
Also Known As "thiopurine S-methyltransferase deficiency" ; "TPMT deficiency"
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disease of metabolism
 |__inherited metabolic disorder__
autosomal genetic disease         |
 |__autosomal recessive disease___|
genetic disease                   |
 |__inherited metabolic disorder__|
                                  poor metabolism of thiopurines
                                   |__poor metabolism of thiopurines 1
                                   |__poor metabolism of thiopurines 2
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Is a autosomal recessive disease
inherited metabolic disorder
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Synonyms
  • "thiopurine S-methyltransferase deficiency" EXACT
    "TPMT deficiency" EXACT
Secondary IDs
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MESH:C536512
MIM:PS610460