galactosemia
Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.
MONDO:0019743
obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
excluded_subClassOf
MONDO:0005328
eye disorder
is_a
MONDO:0017690
disorder of galactose metabolism
is_a
galactosemia
exact
SPBC365.14c SPBPB2B2.12c SPBPB2B2.13 SPBPB2B2.10c