hypercholesterolemia, familial, 4
An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia.
MONDO:0018328
homozygous familial hypercholesterolemia
excluded_subClassOf
MONDO:0019052
inborn errors of metabolism
is_a
MONDO:0037748
hyperlipoproteinemia
is_a
ARH
exact
ARH1
narrow
ARH2
narrow
FHCB1
related
FHCB2
related
autosomal recessive hypercholesterolemia 1
narrow
autosomal recessive hypercholesterolemia 2
narrow
hypercholesterolemia, autosomal recessive
related
hypercholesterolemia, autosomal recessive, 1
related
hypercholesterolemia, autosomal recessive, 2
related