{
    "disease_id": "DOID:0111984", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0029134", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0029134", 
            "name": "IMD58"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0029134", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0029134", 
            "name": "immunodeficiency 58; IMD58"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111984", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111984", 
            "name": "IMD58"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111984", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111984", 
            "name": "severe combined immunodeficiency due to CARMIL2 deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111984", 
        "description": "A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in  B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in CARMIL2 on chromosome 16q22.1.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111984", 
        "name": "immunodeficiency 58"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/618131", 
            "id": "618131", 
            "database": "MIM"
        }
    ]
}