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Disease Ontology Browser
familial lipoprotein lipase deficiency (DOID:14118)
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Synonyms: familial chylomiconemia syndrome; familial hyperlipoproteinemia type I; familial LPL deficiency; Fredrickson type I hyperlipoproteinemia; Fredrickson type I lipaemia; hypercholesterinaemic xanthomatosis; hyperchylomicronemia; mixed hyperglyceridemia
Alt IDs: OMIM:118830, OMIM:238600, ICD10CM:E78.3, ICD9CM:272.3, MESH:D008072, NCI:C84771, 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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory