autosomal recessive hypercholesterolemia
Ontology Term:
Status:
Live
Synonym:
ARH
ARH1
ARH2
FHCB1
FHCB2
autosomal recessive hypercholesterolemia 1
autosomal recessive hypercholesterolemia 2
familial autosomal recessive hypercholesterolemia
ARH1
ARH2
FHCB1
FHCB2
autosomal recessive hypercholesterolemia 1
autosomal recessive hypercholesterolemia 2
familial autosomal recessive hypercholesterolemia
Type:
Mapping to OMIM ID:
Comparative Info:
Learn more about this disease from studies in other model systems at the 
WormBase ID:
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.
Parent:
Child:
Associations based on experimental data:
Disease relevant gene:
Automatic gene association:
1 Inferred automatically: Inferred by orthology to human genes with OMIM annotation
