{
    "disease_id": "DOID:0111979",
    "recommended_name": {
        "id": "DOID:0111979",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111979",
        "name": "immunodeficiency 49",
        "description": "A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111979",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111979",
            "name": "severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities",
            "description": ""
        },
        {
            "id": "DOID:0111979",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111979",
            "name": "IMD49",
            "description": ""
        },
        {
            "id": "DOID:0111979",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111979",
            "name": "SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities",
            "description": ""
        },
        {
            "id": "DOID:0111979",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111979",
            "name": "severe combined immunodeficiency 49",
            "description": ""
        },
        {
            "id": "MONDO:0014981",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014981",
            "name": "immunodeficiency 49",
            "description": "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene."
        },
        {
            "id": "MONDO:0014981",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014981",
            "name": "BCL11B primary immunodeficiency disease",
            "description": ""
        },
        {
            "id": "MONDO:0014981",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014981",
            "name": "IMD49",
            "description": ""
        },
        {
            "id": "MONDO:0014981",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014981",
            "name": "immunodeficiency 49; IMD49",
            "description": ""
        },
        {
            "id": "MONDO:0014981",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014981",
            "name": "immunodeficiency type 49",
            "description": ""
        },
        {
            "id": "MONDO:0014981",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014981",
            "name": "primary immunodeficiency disease caused by mutation in BCL11B",
            "description": ""
        },
        {
            "id": "MIM:617237",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617237",
            "name": "Immunodeficiency 49, severe combined",
            "description": "Immunodeficiency 49, severe combined"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111979"
    ],
    "unlinked_id_list": []
}