|
DOID:0050884 - triosephosphate isomerase deficiency
Disease Ontology 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.
Synonyms: Triose phosphate-isomerase deficiency
Xenbase Genes
:
tpi1
| MONDO:0014221 - triosephosphate isomerase deficiency |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
glucose metabolism disease (is_a)