Human genes for autosomal recessive hypercholesterolemia
Autosomal recessive hypercholesterolemia [DOID:0090105]
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.
Synonyms: autosomal recessive hypercholesterolemia, DOID:0090105, autosomal recessive hypercholesterolemias, ARH, ARH1 ...