{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0111961",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111961",
            "categories": []
        },
        {
            "id": "MONDO:0014423",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014423",
            "categories": []
        },
        {
            "id": "MIM:615966",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615966",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F4J7-1",
            "uniprot_ac": "E7F4J7",
            "uniprot_id": "E7F4J7_DANRE",
            "refseq_ac": "XP_009301676",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-dependent protein kinase catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "DNA-dependent protein kinase catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prkdc",
                    "type": "recommended"
                },
                {
                    "name": "prkdc",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F4J7-1",
            "evidence": [
                {
                    "id": "0111961",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111961"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97313-1",
            "uniprot_ac": "P97313",
            "uniprot_id": "PRKDC_MOUSE",
            "refseq_ac": "NP_035289",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-dependent protein kinase catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "DNA-PK catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA-PKcs",
                    "type": "synonym"
                },
                {
                    "name": "DNA-dependent protein kinase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "doxorubicin nephropathy",
                    "type": "synonym"
                },
                {
                    "name": "p460",
                    "type": "synonym"
                },
                {
                    "name": "severe combined immunodeficiency",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prkdc",
                    "type": "recommended"
                },
                {
                    "name": "DNA-PKcs",
                    "type": "synonym"
                },
                {
                    "name": "DNAPDcs",
                    "type": "synonym"
                },
                {
                    "name": "DNAPK",
                    "type": "synonym"
                },
                {
                    "name": "DNPK1",
                    "type": "synonym"
                },
                {
                    "name": "DOXNPH",
                    "type": "synonym"
                },
                {
                    "name": "HYRC1",
                    "type": "synonym"
                },
                {
                    "name": "Prkdc",
                    "type": "synonym"
                },
                {
                    "name": "XRCC7",
                    "type": "synonym"
                },
                {
                    "name": "Xrcc7",
                    "type": "synonym"
                },
                {
                    "name": "dxnph",
                    "type": "synonym"
                },
                {
                    "name": "p460",
                    "type": "synonym"
                },
                {
                    "name": "scid",
                    "type": "synonym"
                },
                {
                    "name": "slip",
                    "type": "synonym"
                }
            ],
            "record_id": "P97313-1",
            "evidence": [
                {
                    "id": "0111961",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111961"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P78527-1",
            "uniprot_ac": "P78527",
            "uniprot_id": "PRKDC_HUMAN",
            "refseq_ac": "NP_001075109",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-dependent protein kinase catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "DNA-PK catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA-PKcs",
                    "type": "synonym"
                },
                {
                    "name": "DNA-dependent protein kinase catalytic subunit isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "DNA-dependent protein kinase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNPK1",
                    "type": "synonym"
                },
                {
                    "name": "S473K",
                    "type": "synonym"
                },
                {
                    "name": "Ser-473 kinase",
                    "type": "synonym"
                },
                {
                    "name": "hyper-radiosensitivity of murine scid mutation, complementing 1",
                    "type": "synonym"
                },
                {
                    "name": "p460",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, DNA-activated, catalytic polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "ser-473 kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRKDC",
                    "type": "recommended"
                },
                {
                    "name": "DNA-PKC",
                    "type": "synonym"
                },
                {
                    "name": "DNA-PKcs",
                    "type": "synonym"
                },
                {
                    "name": "DNAPKc",
                    "type": "synonym"
                },
                {
                    "name": "DNAPK",
                    "type": "synonym"
                },
                {
                    "name": "DNPK1",
                    "type": "synonym"
                },
                {
                    "name": "HYRC1",
                    "type": "synonym"
                },
                {
                    "name": "HYRC",
                    "type": "synonym"
                },
                {
                    "name": "IMD26",
                    "type": "synonym"
                },
                {
                    "name": "PRKDC",
                    "type": "synonym"
                },
                {
                    "name": "S473K",
                    "type": "synonym"
                },
                {
                    "name": "XRCC7",
                    "type": "synonym"
                },
                {
                    "name": "p350",
                    "type": "synonym"
                }
            ],
            "record_id": "P78527-1",
            "evidence": [
                {
                    "id": "615966",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615966"
                },
                {
                    "id": "0111961",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111961"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZTN0-1",
            "uniprot_ac": "D3ZTN0",
            "uniprot_id": "D3ZTN0_RAT",
            "refseq_ac": "NP_001101797",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-dependent protein kinase catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "DNA-dependent protein kinase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "p460",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, DNA activated, catalytic polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prkdc",
                    "type": "recommended"
                },
                {
                    "name": "Prkdc",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZTN0-1",
            "evidence": [
                {
                    "id": "0111961",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111961"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111961"
}