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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
MIM:230350 - galactose epimerase deficiency |
MIM:230400 - galactosemia |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
carbohydrate metabolic disorder (is_a)