OBO ID: DOID:0090019
Term Name: sitosterolemia Search Ontology:
Synonyms:
  • phytosterolemia
Definition: An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21. (2)
References:
Ontology: Human Disease   (DOID:0090019)
OTHER sitosterolemia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ABCG8 Sitosterolemia 1 210250
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None