Search Ontology:
Human Disease

cholesterol ester storage disease

Term ID
DOID:14502
Synonyms
  • CESD
  • partial cholesterol ester hydrolase deficiency
  • partial LAL deficiency
  • partial LIPA deficiency
  • partial lysosomal acid lipase deficiency
(all 5)
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. (2)
References
(all 6)
Ontology
Human Disease   ( DOID:14502 )
Relationships
Other Pages
Genes Involved
Zebrafish Models