cholesterol ester storage disease (DOID:14502)
Alliance: disease page
Synonyms: CESD; partial cholesterol ester hydrolase deficiency; partial LAL deficiency; partial LIPA deficiency; partial lysosomal acid lipase deficiency
Alt IDs: OMIM:278000, MESH:D015217, ORDO:75234, UMLS_CUI:C0008384
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.