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DOID:0060969 - galactosemia 4
Disease Ontology Definition:A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22.
Synonyms: GALM deficiency, Galactose mutarotase deficiency, Galactosemia type 4,
Xenbase Genes :
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
galactosemia (is_a)