{
    "disease_id": "DOID:0111992", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0054696", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0054696", 
            "name": "immunodeficiency 53; IMD53"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0054696", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0054696", 
            "name": "IMD53"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111992", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111992", 
            "name": "IMD53"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111992", 
        "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 RELB on chromosome 19q13.32.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111992", 
        "name": "immunodeficiency 53"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111992#disease-associations", 
            "id": "0111992", 
            "database": "Alliance of Genome Resources"
        }
    ]
}