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Vexas Syndrome

Disease ID: disease_node_20296

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DbxrefMIM:301054, ORDO:596753
SubclassofDOID_225
Data SourceDOID
Synonymsvacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome
Doid LabelVEXAS syndrome
Doid DescriptionA 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.
Disease Node Iddisease_node_20296
Doid IdDOID_0080828
LabelVexas Syndrome