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