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Disease Ontology Browser
VEXAS syndrome (DOID:0080828)
Alliance: disease page
Synonyms: vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome
Alt IDs: OMIM:301054, ORDO:596753
Definition: A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutation in the UBA1 gene on chromosome Xp11.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory