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DOID:0090019 - sitosterolemia
Disease Ontology 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.
Synonyms: phytosterolemia,
Echinobase Genes :
MIM:210250 - sitosterolemia |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
intestinal disease (is_a)