"ORDO:2882"^^ . "GARD:7653"^^ . "OMIM:210250"^^ . . "UMLS_CUI:C0342907"^^ . "MESH:C537345"^^ . _:vb50942064 . "disease_ontology"^^ . _:vb50942064 . _:vb50942064 . . "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."^^ . "sitosterolemia"^^ . "DOID:0090019"^^ . _:vb50942064 . "SNOMEDCT_US_2021_09_01:238104009"^^ . . "phytosterolemia"@en . . . _:vb50942064 . "NCI:C125694"^^ .