{
    "disease_id": "DOID:0111979", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014981", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014981", 
            "name": "immunodeficiency 49; IMD49"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014981", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014981", 
            "name": "BCL11B primary immunodeficiency disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014981", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014981", 
            "name": "immunodeficiency type 49"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014981", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014981", 
            "name": "SCID, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014981", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014981", 
            "name": "IMD49"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014981", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014981", 
            "name": "severe combined immunodeficiency, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014981", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014981", 
            "name": "primary immunodeficiency disease caused by mutation in BCL11B"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111979", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111979", 
            "name": "IMD49"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111979", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111979", 
            "name": "severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111979", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111979", 
            "name": "SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111979", 
        "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 BCL11B on chromosome 14q32.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111979", 
        "name": "immunodeficiency 49"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/617237", 
            "id": "617237", 
            "database": "MIM"
        }
    ]
}