{
    "disease_id": "DOID:0061068",
    "recommended_name": {
        "id": "DOID:0061068",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061068",
        "name": "immunodeficiency 98",
        "description": "A combined T cell and B cell immunodeficiency that is characterized by recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life and that has_material_basis_in hemizygous mutation in the TLR8 gene on chromosome Xp22."
    },
    "synonyms": [
        {
            "id": "DOID:0061068",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061068",
            "name": "X-linked immunodeficiency 98 with autoinflammation",
            "description": ""
        },
        {
            "id": "MONDO:0024777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024777",
            "name": "immunodeficiency 98 with autoinflammation, X-linked",
            "description": "An immunodeficiency disease characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopenias, including neutropenia."
        },
        {
            "id": "MONDO:0024777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024777",
            "name": "IMD98",
            "description": ""
        },
        {
            "id": "MONDO:0024777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024777",
            "name": "X-linked immunodeficiency with autoinflammation",
            "description": ""
        },
        {
            "id": "MONDO:0024777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024777",
            "name": "immunodeficiency 98 with autoinflammation, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0024777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024777",
            "name": "inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8",
            "description": ""
        },
        {
            "id": "MIM:301078",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301078",
            "name": "Immunodeficiency 98 with autoinflammation, X-linked",
            "description": "Immunodeficiency 98 with autoinflammation, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061068"
    ],
    "unlinked_id_list": []
}