Summary Literature (0)

DOID:0090105 - autosomal recessive hypercholesterolemia

Disease Ontology 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.

Synonyms: familial autosomal recessive hypercholesterolemia, ARH, ARH1, ARH2, FHCB1, FHCB2, autosomal recessive hypercholesterolemia 1, autosomal recessive hypercholesterolemia 2, familial autosomal recessive hypercholesterolemia,

Xenbase Genes : ldlrap1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011374 - hypercholesterolemia, familial, 4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee