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Echinobase
Summary Literature (0)
DOID:9870 - galactosemia

Disease Ontology Definition:A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.

Synonyms: Galactosaemia, Galactose intolerance,

Echinobase Genes : gale, galk1, galt


OMIM:
MIM:230350 - galactose epimerase deficiency
MIM:230400 - galactosemia

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): carbohydrate metabolic disorder (is_a)