classic galactosemia (DOID:0111459)
Alliance: disease page
Synonyms: galactose-1-phosphate uridyltransferase deficiency; galactosemia type 1; GALT deficiency
Alt IDs: OMIM:230400, MESH:D005693, NCI:C99104, ORDO:79239, UMLS_CUI:C0268151
Definition: A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in the GALT gene on chromosome 9p13.3.