Term Name: galactose epimerase deficiency
Synonyms: epimerase deficiency galactosemia, galactosemia III, galactosemia type 3, GALE deficiency, GALE-D, UDP-galactose-4-epimerase deficiency, uridine diphosphate galactose-4-epimerase deficiency
Definition: A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALE gene on chromosome 1p36.11.
Ontology: Human Disease [DOID:0111458]   ( DOID:0111458 )

Relationships
is a type of: autosomal recessive disease galactosemia