Term Name: cholesterol ester storage disease
Synonyms: CESD, partial cholesterol ester hydrolase deficiency, partial LAL deficiency, partial LIPA deficiency, partial lysosomal acid lipase deficiency
Definition: A lysosomal acid lipase deficiency characterized by onset in childhood or later of progressive accumulation of cholesteryl esters and triglycerides primarily in the liver and spleen.
Ontology: Human Disease [DOID:14502]   ( DOID:14502 )

Relationships
is a type of: lysosomal acid lipase deficiency