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
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
Ontology
Human Disease   ( DOID:14502 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations