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Human Disease

sitosterolemia 1

Term ID
DOID:0090019
Synonyms
  • phytosterolemia
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. (2)
References
Ontology
Human Disease   ( DOID:0090019 )
Relationships
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Genes Involved
Zebrafish Models