|Name||autosomal recessive hypercholesterolemia|
|Definition||A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36.
autosomal recessive hypercholesterolemia 1 [EXACT]
autosomal recessive hypercholesterolemia 2 [EXACT]
familial autosomal recessive hypercholesterolemia [EXACT]
is_a genetic disease