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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 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,
Echinobase Genes :
MIM:238600 - hyperlipoproteinemia, type i |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
familial hyperlipidemia (is_a)