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VEXAS syndrome MeSH Supplementary Concept Data 2025


MeSH Supplementary
VEXAS syndrome
Unique ID
C000721467
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C000721467
Entry Term(s)
VEXAS
vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome
Registry Numbers
0
Heading Mapped to
*Myelodysplastic Syndromes
*Skin Diseases, Genetic
Frequency
6
Note
an adult-onset severe autoinflammatory disease associated with diffuse inflammation, predisposition to HEMATOLOGIC NEOPLASMS and THROMBOSIS. It is due to somatic mutations in the UBA1 PROTEIN, HUMAN gene.
Date of Entry
2022/02/22
Revision Date
2022/02/22
VEXAS syndrome Preferred
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