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Summary Literature (0)
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 Disease Ontology (on Monarch Initiative):
MONDO:0014221 - triosephosphate isomerase deficiency

MIM:
MIM:615512 - TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; TPID

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)