cholesteryl ester storage disease
A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.
MONDO:0800449
lysosomal acid lipase deficiency
is_a
CESD
related
LAL deficiency, partial
exact
LIPA deficiency, partial
exact
cholesterol ester hydrolase deficiency, partial
exact
cholesterol ester storage disease
exact
lysosomal acid lipase deficiency, partial
exact
SPBC16A3.12c SPBC14C8.15 SPCC1672.09