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Disease Ontology Browser
familial lipoprotein lipase deficiency (DOID:14118)
Alliance: disease page
Synonyms: familial chylomicronemia syndrome; familial hyperlipoproteinemia type I; familial LPL deficiency; Fredrickson type I hyperlipoproteinemia; Fredrickson type I lipaemia; hypercholesterinaemic xanthomatosis; hyperchylomicronemia; mixed hyperglyceridemia
Alt IDs: OMIM:238600, ICD10CM:E78.3, ICD9CM_2006:272.3, ICD9CM:272.3, MESH:D008072, NCI:C84771, ORDO:309015, UMLS_CUI:C0023817
Definition: A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.

Disease References using Mouse Models (2)

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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last database update
11/12/2019
MGI 6.14
The Jackson Laboratory