OBO ID: DOID:0090105
Term Name: autosomal recessive hypercholesterolemia Search Ontology:
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)
OTHER autosomal recessive hypercholesterolemia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LDLRAP1 Hypercholesterolemia, familial, 4 603813
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None