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Standards Ontologies Notations
sitosterolemia

Summary
Synonym
  • phytosterolemia
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.
Super Class
autosomal recessive disease intestinal disease
Disease Ontology
DOID:0090019
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
64240 ABCG5 ATP binding cassette subfamily G member 5
64241 ABCG8 ATP binding cassette subfamily G member 8
Displaying all 2 entries
Gene ID Gene Symbol Description Source
27409 Abcg5 ATP binding cassette subfamily G member 5
67470 Abcg8 ATP binding cassette subfamily G member 8
Displaying all 2 entries
Gene ID Gene Symbol Description Source
114628 Abcg5 ATP binding cassette subfamily G member 5
155192 Abcg8 ATP binding cassette subfamily G member 8
Displaying 1 entry
Gene ID Gene Symbol Description Source
854080 YOL075C uncharacterized protein
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024