| Metadata | |
|---|---|
| ID | DOID:0080828 |
| Name | VEXAS 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. https://www.nejm.org/doi/full/10.1056/NEJMoa2026834, https://www.nih.gov/news-events/news-releases/scientists-use-clues-human-genome-discover-new-inflammatory-syndrome |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |