sitosterolemia (DOID:0090019)
Alliance: disease page
Synonyms: phytosterolemia
Alt IDs: OMIM:210250, MESH:C537345, NCI:C125694, ORDO:2882, UMLS_CUI:C0342907
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.