Term Name: | sitosterolemia |
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Synonyms: | phytosterolemia |
Definition: | An intestinal disease with autosomal recessive inheritance characterized by 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. |
Ontology: | Human Disease [DOID:0090019] ( DOID:0090019 ) |