{
    "disease_id": "DOID:0111945",
    "recommended_name": {
        "id": "DOID:0111945",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111945",
        "name": "immunodeficiency 31A",
        "description": "A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in STAT1 on chromosome 2q32.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111945",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111945",
            "name": "MSMD due to partial signal transducer and activator of transcription 1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111945",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111945",
            "name": "IMD31A",
            "description": ""
        },
        {
            "id": "DOID:0111945",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111945",
            "name": "MSMD due to partial STAT1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111945",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111945",
            "name": "autosomal dominant immunodeficiency 31A, mycobacteriosis",
            "description": ""
        },
        {
            "id": "DOID:0111945",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111945",
            "name": "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111945",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111945",
            "name": "Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013956",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013956",
            "name": "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency",
            "description": "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections."
        },
        {
            "id": "MONDO:0013956",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013956",
            "name": "MSMD due to partial STAT1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013956",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013956",
            "name": "MSMD due to partial signal transducer and activator of transcription 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013956",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013956",
            "name": "Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013956",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013956",
            "name": "STAT1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013956",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013956",
            "name": "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in STAT1",
            "description": ""
        },
        {
            "id": "MONDO:0013956",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013956",
            "name": "immunodeficiency type 31A",
            "description": ""
        },
        {
            "id": "MONDO:0013956",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013956",
            "name": "IMD31A",
            "description": ""
        },
        {
            "id": "MONDO:0013956",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013956",
            "name": "Stat1 deficiency, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013956",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013956",
            "name": "immunodeficiency 31A",
            "description": ""
        },
        {
            "id": "MONDO:0013956",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013956",
            "name": "immunodeficiency 31A, Mycobacteriosis, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:614892",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614892",
            "name": "Immunodeficiency 31A",
            "description": "Immunodeficiency 31A"
        }
    ]
}