{
    "disease_id": "DOID:0081155",
    "recommended_name": {
        "id": "DOID:0081155",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0081155",
        "name": "common variable immunodeficiency 13",
        "description": "A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12."
    },
    "synonyms": [
        {
            "id": "MONDO:0014810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014810",
            "name": "pancytopenia due to IKZF1 mutations",
            "description": "Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene."
        },
        {
            "id": "MONDO:0014810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014810",
            "name": "CVID13",
            "description": ""
        },
        {
            "id": "MONDO:0014810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014810",
            "name": "Cid due to IKAROS deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014810",
            "name": "IKZF1 syndrome with combined immunodeficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014810",
            "name": "combined immunodeficiency due to IKAROS deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014810",
            "name": "immunodeficiency, common variable, 13",
            "description": ""
        },
        {
            "id": "MONDO:0014810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014810",
            "name": "immunodeficiency, common variable, type 13",
            "description": ""
        },
        {
            "id": "MONDO:0014810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014810",
            "name": "syndrome with combined immunodeficiency caused by mutation in IKZF1",
            "description": ""
        },
        {
            "id": "MIM:616873",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616873",
            "name": "Immunodeficiency, common variable, 13",
            "description": "Immunodeficiency, common variable, 13"
        }
    ]
}