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DOID:0111459 - classic galactosemia
Disease Ontology Definition:A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3.
Synonyms: GALT deficiency, galactose-1-phosphate uridyltransferase deficiency, galactosemia type 1,
Xenbase Genes : galt
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee