{
    "disease_id": "DOID:0111956",
    "recommended_name": {
        "id": "DOID:0111956",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111956",
        "name": "immunodeficiency 27B",
        "description": "A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro, recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in IFNGR1 on chromosome 6q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111956",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111956",
            "name": "IMD27B",
            "description": ""
        },
        {
            "id": "DOID:0111956",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111956",
            "name": "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111956",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111956",
            "name": "autosomal dominant IFNGR1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111956",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111956",
            "name": "autosomal dominant MSMD due to partial IFNgammaR1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111956",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111956",
            "name": "autosomal dominant immunodeficiency 27B, mycobacteriosis",
            "description": ""
        },
        {
            "id": "DOID:0111956",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111956",
            "name": "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111956",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111956",
            "name": "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency",
            "description": "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)."
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "immunodeficiency 27B",
            "description": ""
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "immunodeficiency type 27B",
            "description": ""
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "IFNGR1 deficiency, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "autosomal dominant MSMD due to partial IFNgammaR1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "IMD27B",
            "description": ""
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "immunodeficiency 27B; IMD27B",
            "description": ""
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1",
            "description": ""
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "immunodeficiency 27B, Mycobacteriosis, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency",
            "description": ""
        },
        {
            "id": "MIM:615978",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615978",
            "name": "Immunodeficiency 27B",
            "description": "Immunodeficiency 27B"
        }
    ]
}