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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:VEXAS syndrome
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Accession:DOID:0080828 term browser browse the term
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 mutations in the UBA1 gene. (DO)
Synonyms:exact_synonym: VEXAS;   VEXAS syndrome, somatic;   vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome
 primary_id: OMIM:301054
For additional species annotation, visit the Alliance of Genome Resources.



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VEXAS syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: VEXAS syndrome OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:33108101 PMID:33690815 NCBI chr  X:1,508,700...1,530,677
Ensembl chr  X:1,508,666...1,530,636
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    syndrome 8262
      VEXAS syndrome 1
Path 2
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        genetic disease 9072
          monogenic disease 7224
            X-linked monogenic disease 1028
              VEXAS syndrome 1
paths to the root