OBO ID: DOID:0080828
Term Name: VEXAS syndrome Search Ontology:
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:
OTHER VEXAS syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
UBA1 VEXAS syndrome, somatic 301054
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)