DO_rare_slim lysosomal acid lipase deficiency cholesterol ester storage disease MESH:D015217 GARD:12099 SNOMEDCT_US_2025_09_01:57218003 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. CESD MIM:278000 DOID:14502 ORDO:75234 disease_ontology ORDO:75234 MESH:D015217 MIM:278000 GARD:12099 UMLS_CUI:C0008384 partial LAL deficiency partial LIPA deficiency partial cholesterol ester hydrolase deficiency partial lysosomal acid lipase deficiency