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Summary Literature (1)
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: Fredrickson type IIa hyperlipoproteinemia, Fredrickson type IIa lipidaemia, familial hyperbetalipoproteinaemia, familial hypercholesteremia, hyperbetalipoproteinemia, type II hyperlipidemia

Xenbase Genes : ghr, ppp1r17, ephx2, ldlrap1, ldlr, itih4, abca1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0005439 - familial hypercholesterolemia


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)