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cholesterol ester storage disease
Summary
- Synonym
-
- CESD
- partial LAL deficiency
- partial LIPA deficiency
- partial cholesterol ester hydrolase 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.
- Super Class
- lysosomal acid lipase deficiency
External Links
- Disease Ontology
- DOID:14502
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
