Term Name: sitosterolemia
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 )

Relationships
is a type of: autosomal recessive disease intestinal disease
has subtype: sitosterolemia 1 sitosterolemia 2