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.