Norum disease
A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.
MONDO:0003664
hemolytic anemia
excluded_subClassOf
MONDO:0001822
hypolipoproteinemia
is_a
MONDO:0018999
LCAT deficiency
is_a
FLD
exact
Norum disease
exact
complete LCAT deficiency
exact
lecithin acyltransferase deficiency
exact
lecithin:cholesterol acyltransferase deficiency
exact
SPBC776.14