{
    "disease_id": "DOID:0111986",
    "recommended_name": {
        "id": "DOID:0111986",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111986",
        "name": "immunodeficiency 32A",
        "description": "A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in IRF8 on chromosome 16q24.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111986",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111986",
            "name": "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111986",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111986",
            "name": "IMD32A",
            "description": ""
        },
        {
            "id": "DOID:0111986",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111986",
            "name": "MSMD due to partial interferon regulatory factor 8 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111986",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111986",
            "name": "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111986",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111986",
            "name": "MSMD due to partial IRF8 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111986",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111986",
            "name": "immunodeficiency 32A, mycobacteriosis, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "name": "mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency",
            "description": "Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-GuC)rin (BCG).."
        },
        {
            "id": "MONDO:0013957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "name": "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IRF8",
            "description": ""
        },
        {
            "id": "MONDO:0013957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "name": "immunodeficiency 32A",
            "description": ""
        },
        {
            "id": "MONDO:0013957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "name": "MSMD due to partial IRF8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "name": "immunodeficiency type 32A",
            "description": ""
        },
        {
            "id": "MONDO:0013957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "name": "immunodeficiency 32A; IMD32A",
            "description": ""
        },
        {
            "id": "MONDO:0013957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "name": "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "name": "immunodeficiency 32A, Mycobacteriosis, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "name": "IMD32A",
            "description": ""
        },
        {
            "id": "MONDO:0013957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "name": "MSMD due to partial interferon regulatory factor 8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "name": "CD11c-positive/CD1c-positive Dendritic cell deficiency, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "name": "IRF8 deficiency, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "name": "IRF8 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency",
            "description": ""
        },
        {
            "id": "MIM:614893",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614893",
            "name": "Immunodeficiency 32A",
            "description": "Immunodeficiency 32A"
        }
    ]
}