Search Ontology:
Human Disease

autosomal recessive hypercholesterolemia

Term ID
DOID:0090105
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. (2)
References
Ontology
Human Disease   ( DOID:0090105 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models