Term Name: classic galactosemia
Synonyms: galactose-1-phosphate uridyltransferase deficiency, galactosemia type 1, GALT deficiency
Definition: A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3.
Ontology: Human Disease [DOID:0111459]   ( DOID:0111459 )

Relationships
is a type of: autosomal recessive disease galactosemia