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Disease Ontology Browser
cholesterol ester storage disease (DOID:14502)
Alliance: disease page
Synonyms: CESD; partial cholesterol ester hydrolase deficiency; partial LAL deficiency; partial LIPA deficiency; partial lysosomal acid lipase deficiency
Alt IDs: OMIM:278000, MESH:D015217, ORDO:75234, UMLS_CUI:C0008384
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory