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DO Term : sitosterolemia 2 [DOID:0060983] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:618666,
  • 618666
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents