sitosterolemia 2

Term ID

DOID:0060983

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. https://pubmed.ncbi.nlm.nih.gov/11099417/

References

• MIM:618666

Ontology

Human Disease   ( DOID:0060983 )