Term Name:	autosomal recessive hypercholesterolemia
Synonyms:	ARH, ARH1, ARH2, autosomal recessive hypercholesterolemia 1, autosomal recessive hypercholesterolemia 2, familial autosomal recessive hypercholesterolemia, FHCB1, FHCB2
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.
Ontology:	Human Disease [DOID:0090105]   ( DOID:0090105 )