Term Name: | VEXAS syndrome |
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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 ) |