{
    "disease_id": "DOID:0060705",
    "recommended_name": {
        "id": "DOID:0060705",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060705",
        "name": "X-linked lymphoproliferative syndrome 1",
        "description": "A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25."
    },
    "synonyms": [
        {
            "id": "DOID:0060705",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060705",
            "name": "XLP1",
            "description": ""
        },
        {
            "id": "MONDO:0024551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024551",
            "name": "X-linked lymphoproliferative disease due to SH2D1A deficiency",
            "description": "A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells."
        },
        {
            "id": "MONDO:0024551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024551",
            "name": "X-linked lymphoproliferative disease due to SH2D1A deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0024551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024551",
            "name": "lymphoproliferative syndrome, X-linked, 1, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0024551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024551",
            "name": "Duncan disease",
            "description": ""
        },
        {
            "id": "MONDO:0024551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024551",
            "name": "EBV infection, Severe, susceptibility to",
            "description": ""
        },
        {
            "id": "MONDO:0024551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024551",
            "name": "Epstein-Barr Virus infection, familial fatal",
            "description": ""
        },
        {
            "id": "MONDO:0024551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024551",
            "name": "Lyp",
            "description": ""
        },
        {
            "id": "MONDO:0024551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024551",
            "name": "Purtilo syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0024551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024551",
            "name": "XLP1",
            "description": ""
        },
        {
            "id": "MONDO:0024551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024551",
            "name": "Xlp",
            "description": ""
        },
        {
            "id": "MONDO:0024551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024551",
            "name": "immunodeficiency 5",
            "description": ""
        },
        {
            "id": "MONDO:0024551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024551",
            "name": "immunodeficiency, X-linked progressive combined variable",
            "description": ""
        },
        {
            "id": "MONDO:0024551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024551",
            "name": "infectious mononucleosis, Severe, susceptibility to",
            "description": ""
        },
        {
            "id": "MONDO:0024551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024551",
            "name": "lymphoproliferative disease, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0024551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024551",
            "name": "lymphoproliferative syndrome, X-linked, 1",
            "description": ""
        },
        {
            "id": "MIM:308240",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/308240",
            "name": "Lymphoproliferative syndrome, X-linked, 1",
            "description": "Lymphoproliferative syndrome, X-linked, 1"
        }
    ]
}