Term Name: | cholesterol ester storage disease |
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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. |
Ontology: | Human Disease [DOID:14502] ( DOID:14502 ) |