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Echinobase
Summary Literature (0)
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: galactosemia type 1, GALT deficiency, galactose-1-phosphate uridyltransferase deficiency

Echinobase Genes : galt


MIM:
MIM:230400 - galactosemia

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), galactosemia (is_a)