Version: 8.0.0
Date: Tue Jan 28 2025
2 results
Disease Models: galt<zf2028/zf2028> (Dre)

galactosemia

Disease
Source: DOID:9870
Definition: A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.

classic galactosemia

Disease
Source: DOID:0111459
Definition: A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3.