{
    "disease_id": "DOID:0061058",
    "recommended_name": {
        "id": "DOID:0061058",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0061058",
        "name": "immunodeficiency 88",
        "description": "A primary immunodeficiency disease that is characterized by the development of disseminated mycobacterial disease following vaccination with BCG and that has_material_basis_in homozygous mutation in the TBX21 gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0030483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030483",
            "name": "immunodeficiency 88",
            "description": "An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines."
        },
        {
            "id": "MONDO:0030483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030483",
            "name": "IMD88",
            "description": ""
        },
        {
            "id": "MONDO:0030483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030483",
            "name": "Mendelian susceptibility to mycobacterial diseases due to TBX21 deficiency",
            "description": ""
        },
        {
            "id": "MIM:619630",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619630",
            "name": "Immunodeficiency 88",
            "description": "Immunodeficiency 88"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061058"
    ],
    "unlinked_id_list": []
}
