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Metadata
ID DOID:0090019
Name sitosterolemia
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.
https://www.ncbi.nlm.nih.gov/pubmed/11099417, https://www.ncbi.nlm.nih.gov/pubmed/11138003
Xrefs

GARD:7653

MESH:C537345

NCI:C125694

OMIM:210250

ORDO:2882

UMLS_CUI:C0342907

Subsets

NCIthesaurus

Synonyms

phytosterolemia [EXACT]

Parent Relationships

is_a intestinal disease

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