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Human Disease

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
Ontology
Human Disease   ( DOID:0080828 )
Relationships
is a type of
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Genes Involved
Zebrafish Models