{
    "disease_id": "DOID:0111961", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014423", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014423", 
            "name": "severe combined immunodeficiency due to DNA-PKcs deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014423", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014423", 
            "name": "immunodeficiency 26 with or without neurologic abnormalities; IMD26"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014423", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014423", 
            "name": "immunodeficiency 26 with or without neurologic abnormalities"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014423", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014423", 
            "name": "SCID due to DNA-PKcs deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014423", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014423", 
            "name": "IMD26"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111961", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111961", 
            "name": "IMD26"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111961", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111961", 
            "name": "SCID due to DNA-PKcs deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111961", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111961", 
            "name": "immunodeficiency 26, with or without neurologic abnormalities"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111961", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111961", 
            "name": "severe combined immunodeficiency due to DNA-PKcs deficiency"
        }, 
        {
            "url": "https://www.omim.org/entry/615966", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:615966", 
            "name": "Immunodeficiency 26 with or without neurologic abnormalities"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111961", 
        "description": "A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in PRKDC on chromosome 8q11.21.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111961", 
        "name": "immunodeficiency 26"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/615966", 
            "id": "615966", 
            "database": "MIM"
        }
    ]
}
