{
    "disease_id": "DOID:0080828",
    "recommended_name": {
        "id": "DOID:0080828",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080828",
        "name": "VEXAS syndrome",
        "description": "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."
    },
    "synonyms": [
        {
            "id": "DOID:0080828",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080828",
            "name": "vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0026777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026777",
            "name": "VEXAS syndrome",
            "description": "An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death."
        },
        {
            "id": "MONDO:0026777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026777",
            "name": "VEXAS",
            "description": ""
        },
        {
            "id": "MONDO:0026777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026777",
            "name": "VEXAS syndrome, somatic",
            "description": ""
        },
        {
            "id": "MONDO:0026777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026777",
            "name": "vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome",
            "description": ""
        },
        {
            "id": "MIM:301054",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301054",
            "name": "VEXAS syndrome",
            "description": "VEXAS syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080828"
    ],
    "unlinked_id_list": []
}