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VEXAS syndrome
Summary
- Synonym
-
- vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome
- 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.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0080828
- Mondo Disease Ontology
- ORDO
- OMIM
