{
    "disease_id": "DOID:0111992",
    "recommended_name": {
        "id": "DOID:0111992",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111992",
        "name": "immunodeficiency 53",
        "description": "A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32."
    },
    "synonyms": [
        {
            "id": "DOID:0111992",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111992",
            "name": "IMD53",
            "description": ""
        },
        {
            "id": "MONDO:0054696",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054696",
            "name": "immunodeficiency 53",
            "description": ""
        },
        {
            "id": "MONDO:0054696",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054696",
            "name": "immunodeficiency 53",
            "description": ""
        },
        {
            "id": "MONDO:0054696",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054696",
            "name": "IMD53",
            "description": ""
        },
        {
            "id": "MIM:617585",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617585",
            "name": "Immunodeficiency 53",
            "description": "Immunodeficiency 53"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111992"
    ],
    "unlinked_id_list": []
}