{
    "disease_id": "DOID:0080319",
    "recommended_name": {
        "id": "DOID:0080319",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080319",
        "name": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia",
        "description": "A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1)."
    },
    "synonyms": [
        {
            "id": "DOID:0080319",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080319",
            "name": "XMEN",
            "description": ""
        },
        {
            "id": "MONDO:0010455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010455",
            "name": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia",
            "description": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyzes show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias."
        },
        {
            "id": "MONDO:0010455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010455",
            "name": "Cid due to MAGT1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010455",
            "name": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010455",
            "name": "XMEN",
            "description": ""
        },
        {
            "id": "MONDO:0010455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010455",
            "name": "combined immunodeficiency due to MAGT1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010455",
            "name": "immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010455",
            "name": "X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010455",
            "name": "immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia",
            "description": ""
        },
        {
            "id": "MIM:300853",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300853",
            "name": "Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia",
            "description": "Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080319"
    ],
    "unlinked_id_list": []
}