{
    "disease_id": "DOID:0080828",
    "recommended_name": {
        "id": "DOID:0080828",
        "resource": "Disease Ontology",
        "url": "https://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": "https://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": [],
    "crossref": [
        {
            "id": "DOID:0080828",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080828",
            "categories": []
        },
        {
            "id": "MONDO:0026777",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026777",
            "categories": []
        },
        {
            "id": "MIM:301054",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301054",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B975-1",
            "uniprot_ac": "A0A8M2B975",
            "uniprot_id": "A0A8M2B975_DANRE",
            "refseq_ac": "XP_005162108",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "E1 ubiquitin-activating enzyme",
                    "type": "recommended"
                },
                {
                    "name": "6.2.1.45",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-activating enzyme E1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like modifier-activating enzyme 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "uba1",
                    "type": "recommended"
                },
                {
                    "name": "fb30f01",
                    "type": "synonym"
                },
                {
                    "name": "uba1",
                    "type": "synonym"
                },
                {
                    "name": "ube1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa01e08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb30f01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi21c11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj14g11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66143",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B975-1",
            "evidence": [
                {
                    "id": "0080828",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080828"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02053-1",
            "uniprot_ac": "Q02053",
            "uniprot_id": "UBA1_MOUSE",
            "refseq_ac": "NP_001129557",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-like modifier-activating enzyme 1",
                    "type": "recommended"
                },
                {
                    "name": "6.2.1.45",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-activating enzyme E1 X",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-activating enzyme E1",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-like modifier-activating enzyme 1 X",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme E1, Chr X",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like modifier-activating enzyme 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uba1",
                    "type": "recommended"
                },
                {
                    "name": "A1S9",
                    "type": "synonym"
                },
                {
                    "name": "Sbx",
                    "type": "synonym"
                },
                {
                    "name": "Uba1",
                    "type": "synonym"
                },
                {
                    "name": "Ube-1",
                    "type": "synonym"
                },
                {
                    "name": "Ube1ax",
                    "type": "synonym"
                },
                {
                    "name": "Ube1x",
                    "type": "synonym"
                },
                {
                    "name": "Ube1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02053-1",
            "evidence": [
                {
                    "id": "0080828",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080828"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22314-1",
            "uniprot_ac": "P22314",
            "uniprot_id": "UBA1_HUMAN",
            "refseq_ac": "NP_003325",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-like modifier-activating enzyme 1",
                    "type": "recommended"
                },
                {
                    "name": "6.2.1.45",
                    "type": "synonym"
                },
                {
                    "name": "A1S9T and BN75 temperature sensitivity complementing",
                    "type": "synonym"
                },
                {
                    "name": "POC20 centriolar protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein A1S9",
                    "type": "synonym"
                },
                {
                    "name": "UBA1, ubiquitin-activating enzyme E1 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-activating enzyme E1",
                    "type": "synonym"
                },
                {
                    "name": "testicular secretory protein Li 63",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like modifier-activating enzyme 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UBA1",
                    "type": "recommended"
                },
                {
                    "name": "A1S9T",
                    "type": "synonym"
                },
                {
                    "name": "A1S9",
                    "type": "synonym"
                },
                {
                    "name": "A1ST",
                    "type": "synonym"
                },
                {
                    "name": "AMCX1",
                    "type": "synonym"
                },
                {
                    "name": "CFAP124",
                    "type": "synonym"
                },
                {
                    "name": "GXP1",
                    "type": "synonym"
                },
                {
                    "name": "POC20",
                    "type": "synonym"
                },
                {
                    "name": "SMAX2",
                    "type": "synonym"
                },
                {
                    "name": "UBA1A",
                    "type": "synonym"
                },
                {
                    "name": "UBA1",
                    "type": "synonym"
                },
                {
                    "name": "UBE1X",
                    "type": "synonym"
                },
                {
                    "name": "UBE1",
                    "type": "synonym"
                },
                {
                    "name": "VEXAS",
                    "type": "synonym"
                }
            ],
            "record_id": "P22314-1",
            "evidence": [
                {
                    "id": "301054",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301054"
                },
                {
                    "id": "0080828",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080828"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22515-1",
            "uniprot_ac": "P22515",
            "uniprot_id": "UBA1_YEAST",
            "refseq_ac": "NP_012712",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-activating enzyme E1 1",
                    "type": "recommended"
                },
                {
                    "name": "6.2.1.45",
                    "type": "synonym"
                },
                {
                    "name": "E1 ubiquitin-activating protein UBA1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UBA1",
                    "type": "recommended"
                },
                {
                    "name": "UBA1",
                    "type": "synonym"
                }
            ],
            "record_id": "P22515-1",
            "evidence": [
                {
                    "id": "0080828",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080828"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U300-1",
            "uniprot_ac": "Q5U300",
            "uniprot_id": "UBA1_RAT",
            "refseq_ac": "NP_001014102",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-like modifier-activating enzyme 1",
                    "type": "recommended"
                },
                {
                    "name": "6.2.1.45",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-activating enzyme E1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme E1, Chr X",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like modifier-activating enzyme 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uba1",
                    "type": "recommended"
                },
                {
                    "name": "Uba1",
                    "type": "synonym"
                },
                {
                    "name": "Ube1x",
                    "type": "synonym"
                },
                {
                    "name": "Ube1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U300-1",
            "evidence": [
                {
                    "id": "0080828",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080828"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080828"
}