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Summary Literature (0)
DOID:14502 - cholesterol ester storage disease

Disease Ontology 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.

Synonyms: CESD, partial cholesterol ester hydrolase deficiency, partial LAL deficiency, partial LIPA deficiency, partial lysosomal acid lipase deficiency

Xenbase Genes : lipa

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019149 - cholesteryl ester storage disease


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): lipid storage disease (is_a), lysosomal acid lipase deficiency (is_a)