Term Name: VEXAS syndrome
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.
Ontology: Human Disease [DOID:0080828]   ( DOID:0080828 )

Relationships
is a type of: syndrome