{
    "disease_id": "DOID:0111961",
    "recommended_name": {
        "id": "DOID:0111961",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111961",
        "name": "immunodeficiency 26",
        "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 the PRKDC gene on chromosome 8q11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111961",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111961",
            "name": "IMD26",
            "description": ""
        },
        {
            "id": "DOID:0111961",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111961",
            "name": "SCID due to DNA-PKcs deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111961",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111961",
            "name": "immunodeficiency 26, with or without neurologic abnormalities",
            "description": ""
        },
        {
            "id": "DOID:0111961",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111961",
            "name": "severe combined immunodeficiency due to DNA-PKcs deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014423",
            "name": "severe combined immunodeficiency due to DNA-PKcs deficiency",
            "description": "Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation."
        },
        {
            "id": "MONDO:0014423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014423",
            "name": "SCID due to DNA-PKcs deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014423",
            "name": "IMD26",
            "description": ""
        },
        {
            "id": "MONDO:0014423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014423",
            "name": "immunodeficiency 26 with or without neurologic abnormalities",
            "description": ""
        },
        {
            "id": "MIM:615966",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615966",
            "name": "Immunodeficiency 26 with or without neurologic abnormalities",
            "description": "Immunodeficiency 26 with or without neurologic abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111961"
    ],
    "unlinked_id_list": []
}