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Summary Literature (0)
MIM:143890 - HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1

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

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007750 - hypercholesterolemia, familial, 1
MONDO:0018328 - homozygous familial hypercholesterolemia

Disease Ontology (DO):
DOID:13810 - familial hypercholesterolemia