VEXAS syndrome

Term ID

DOID:0080828

Synonyms

• 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. (2)

References

• OMIM:301054
• ORDO:596753

Ontology

Human Disease   ( DOID:0080828 )