Compound: CDB005338 (Avenasterol)
Term: Sitosterolemia
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. (do).
Parent Term: Health condition
Parent Definition: A health effect that consists on short or long-term disease, condition, disorder, syndrome or constant abnormality.
Synonyms
Other Compounds Mapped to 'Sitosterolemia'