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Summary Literature (0)
DOID:0090019 - sitosterolemia 1

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

Xenbase Genes : abcg5, abcg8

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008863 - sitosterolemia

MIM:
MIM:210250 - SITOSTEROLEMIA 1; STSL1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), intestinal disease (is_a)