{
    "disease_id": "DOID:0111995",
    "recommended_name": {
        "id": "DOID:0111995",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111995",
        "name": "immunodeficiency 28",
        "description": "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in IFNGR2 on chromosome 21q22.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111995",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111995",
            "name": "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111995",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111995",
            "name": "IMD28",
            "description": ""
        },
        {
            "id": "DOID:0111995",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111995",
            "name": "MSMD due to complete interferon gamma receptor 2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111995",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111995",
            "name": "IFNGR2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111995",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111995",
            "name": "MSMD due to complete IFNgammaR2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111995",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111995",
            "name": "immunodeficiency 28, mycobacteriosis",
            "description": ""
        },
        {
            "id": "DOID:0111995",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111995",
            "name": "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013953",
            "name": "immunodeficiency 28",
            "description": "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene."
        },
        {
            "id": "MONDO:0013953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013953",
            "name": "Ifngr2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013953",
            "name": "IFNGR2 primary immunodeficiency disease",
            "description": ""
        },
        {
            "id": "MONDO:0013953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013953",
            "name": "immunodeficiency 28; IMD28",
            "description": ""
        },
        {
            "id": "MONDO:0013953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013953",
            "name": "IMD28",
            "description": ""
        },
        {
            "id": "MONDO:0013953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013953",
            "name": "immunodeficiency 28",
            "description": ""
        },
        {
            "id": "MONDO:0013953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013953",
            "name": "immunodeficiency 28, Mycobacteriosis",
            "description": ""
        },
        {
            "id": "MONDO:0013953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013953",
            "name": "immunodeficiency type 28",
            "description": ""
        },
        {
            "id": "MONDO:0013953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013953",
            "name": "primary immunodeficiency disease caused by mutation in IFNGR2",
            "description": ""
        },
        {
            "id": "MIM:614889",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614889",
            "name": "Immunodeficiency 28",
            "description": "Immunodeficiency 28"
        }
    ]
}