{
    "disease_id": "DOID:0111990",
    "recommended_name": {
        "id": "DOID:0111990",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111990",
        "name": "immunodeficiency 30",
        "description": "A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111990",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111990",
            "name": "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111990",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111990",
            "name": "IMD30",
            "description": ""
        },
        {
            "id": "DOID:0111990",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111990",
            "name": "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111990",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111990",
            "name": "MSMD due to complete IL12RB1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111990",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111990",
            "name": "MSMD due to complete interleukin 12 receptor beta 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "name": "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency",
            "description": "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene."
        },
        {
            "id": "MONDO:0013955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "name": "IL12RB1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "name": "MSMD due to complete IL12RB1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "name": "MSMD due to complete interleukin 12 receptor beta 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "name": "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "name": "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1",
            "description": ""
        },
        {
            "id": "MONDO:0013955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "name": "immunodeficiency type 30",
            "description": ""
        },
        {
            "id": "MONDO:0013955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "name": "IL-12R1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "name": "IMD30",
            "description": ""
        },
        {
            "id": "MONDO:0013955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "name": "Mendelian susceptibility to mycobacterial infections due to IL12 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "name": "immunodeficiency 30",
            "description": ""
        },
        {
            "id": "MIM:614891",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614891",
            "name": "Immunodeficiency 30",
            "description": "Immunodeficiency 30"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111990"
    ],
    "unlinked_id_list": []
}