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Echinobase
Summary Literature (0)
DOID:13810 - familial hypercholesterolemia

Disease Ontology Definition:A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.

Synonyms: familial hyperbetalipoproteinaemia, familial hypercholesteremia, Fredrickson type IIa hyperlipoproteinemia, Fredrickson type IIa lipidaemia, hyperbetalipoproteinemia, type II hyperlipidemia

Echinobase Genes : ephx2, ldlrap1


MIM:
MIM:143890 - hypercholesterolemia, familial

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): familial hyperlipidemia (is_a)