hypercholesterolemia, autosomal dominant, 3
Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene.
MONDO:0005439
familial hypercholesterolemia
is_a
HCHOLA3
related
PCSK9 familial hypercholesterolemia
exact
familial hypercholesterolemia caused by mutation in PCSK9
exact
hypercholesterolemia, autosomal dominant, 3
exact
hypercholesterolemia, autosomal dominant, type 3
exact
hypercholesterolemia, familial, 3
exact
low density lipoprotein cholesterol level QTL 1
exact
SPAC4A8.04 SPCC338.12 SPAC1006.01