Summary Literature (0)

DOID:14118 - familial lipoprotein lipase deficiency

Disease Ontology 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.

Synonyms: Fredrickson type I hyperlipoproteinemia, Fredrickson type I hyperlipoproteinemia (disorder), Fredrickson type I lipaemia, familial LPL deficiency, familial chylomiconemia syndrome, familial chylomicronemia syndrome, familial hyperchylomicronemia (disorder), familial hyperlipoproteinemia type I, familial lipoprotein lipase deficiency (disorder) [Ambiguous], familial lipoprotein lipase deficiency with type I phenotype, hypercholesterinaemic xanthomatosis, hyperchylomicronemia, mixed hyperglyceridemia,

Xenbase Genes : lpl

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009387 - familial lipoprotein lipase deficiency

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee