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cholesteryl ester storage disease

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption.
Uniprot Description A mild manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. It is characterized by late-onset.
Mondo Term and Equivalent IDs
MONDO:0019149:  cholesteryl ester storage disease
GARD:0012099: 
Orphanet:75234: 
SCTID:57218003: 
UMLS:C0008384: