Term Name: | sitosterolemia 2 |
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Synonyms: | |
Definition: | An intestinal disease that is characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG5 gene on chromosome 2p21. |
Ontology: | Human Disease [DOID:0060983] ( DOID:0060983 ) |