{
    "disease_id": "DOID:0111982", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014082", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014082", 
            "name": "cryptosporidiosis-chronic cholangitis-liver disease syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014082", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014082", 
            "name": "IL21R immunodeficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014082", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014082", 
            "name": "immunodeficiency 56; IMD56"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014082", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014082", 
            "name": "IMD56"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111982", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111982", 
            "name": "IL21R immunodeficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111982", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111982", 
            "name": "IMD56"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111982", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111982", 
            "name": "combined immunodeficiency due to IL21R deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111982", 
        "description": "A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in IL21R on chromosome 16p12.1.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111982", 
        "name": "immunodeficiency 56"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111982#disease-associations", 
            "id": "0111982", 
            "database": "Alliance of Genome Resources"
        }
    ]
}