- OMIM ID
-
143890
- OMIM term:
- HYPERCHOLESTEROLEMIA, FAMILIAL
- Alternative terms:
-
FHC; FH
HYPERLIPOPROTEINEMIA, TYPE II
HYPERLIPOPROTEINEMIA, TYPE IIA
HYPER-LOW-DENSITY-LIPOPROTEINEMIA
HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL
LDL RECEPTOR DISORDER LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2, INCLUDED; LDLCQ2, INCLUDED
- (∗) Location:
- 19p13.2 1q23.3 3p21.1 5p13-p12 7p14.3 8p21.2-p21.1 9q31.1
- (†) Associated OMIM genes:
- ABCA1 APOA2 APOLIPOPROTEIN A-II DEFICIENCY, INCLUDED EPHX2 G-SUBSTRATE GHR GROWTH HORMONE-BINDING PROTEIN, INCLUDED; GHBP, INCLUDED ITIH4 LDLR
- (‡) Associated MGI genes:
- Ldlr
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