Search Ontology:
Human Disease

triosephosphate isomerase deficiency

Term ID
DOID:0050884
Synonyms
  • Triose phosphate-isomerase deficiency
Definition
A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. (7)
References
Ontology
Human Disease   ( DOID:0050884 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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