Visualize Submit Comment
Metadata
ID DOID:0080172
PURL http://purl.obolibrary.org/obo/DOID_0080172 Copy
Name poor metabolism of thiopurines
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
Xrefs

MESH:C536512

MIM:PS610460

Synonyms

thiopurine S-methyltransferase deficiency [EXACT]

TPMT deficiency [EXACT]

Parent Relationships

is_a inherited metabolic disorder

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

Add an item to the term tracker