{
    "disease_id": "DOID:0090013",
    "recommended_name": {
        "id": "DOID:0090013",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090013",
        "name": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive",
        "description": "A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12."
    },
    "synonyms": [
        {
            "id": "DOID:0090013",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090013",
            "name": "SCID due to complete RAG1-2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090013",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090013",
            "name": "Severe combined immunodeficiency due to complete RAG1-2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090013",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090013",
            "name": "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID",
            "description": ""
        },
        {
            "id": "MONDO:0011086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011086",
            "name": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive",
            "description": "A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia."
        },
        {
            "id": "MONDO:0011086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011086",
            "name": "SCID due to complete RAG1/2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011086",
            "name": "severe combined immunodeficiency, B cell-negative",
            "description": ""
        },
        {
            "id": "MONDO:0011086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011086",
            "name": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive",
            "description": ""
        },
        {
            "id": "MONDO:0011086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011086",
            "name": "SCID, AR, T-cell negative, B-cell negative, NK cell-positive",
            "description": ""
        },
        {
            "id": "MONDO:0011086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011086",
            "name": "severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive",
            "description": ""
        },
        {
            "id": "MIM:601457",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601457",
            "name": "Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive",
            "description": "Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090013"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090013",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090013",
            "categories": []
        },
        {
            "id": "MONDO:0011086",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011086",
            "categories": []
        },
        {
            "id": "MIM:601457",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601457",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O13033-1",
            "uniprot_ac": "O13033",
            "uniprot_id": "RAG1_DANRE",
            "refseq_ac": "NP_571464",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "V(D)J recombination-activating protein 1",
                    "type": "recommended"
                },
                {
                    "name": "RAG-1",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RAG1",
                    "type": "synonym"
                },
                {
                    "name": "V(D)J recombination-activating protein 1",
                    "type": "synonym"
                },
                {
                    "name": "etID309719.25",
                    "type": "synonym"
                },
                {
                    "name": "recombinase",
                    "type": "synonym"
                },
                {
                    "name": "recombination activating gene 1",
                    "type": "synonym"
                },
                {
                    "name": "recombination activating protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rag1",
                    "type": "recommended"
                },
                {
                    "name": "RAG-1",
                    "type": "synonym"
                },
                {
                    "name": "rag1",
                    "type": "synonym"
                }
            ],
            "record_id": "O13033-1",
            "evidence": [
                {
                    "id": "0090013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090013"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O13034-1",
            "uniprot_ac": "O13034",
            "uniprot_id": "RAG2_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "V(D)J recombination-activating protein 2",
                    "type": "recommended"
                },
                {
                    "name": "RAG-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rag2",
                    "type": "recommended"
                },
                {
                    "name": "rag-2",
                    "type": "synonym"
                }
            ],
            "record_id": "O13034-1",
            "evidence": [
                {
                    "id": "0090013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090013"
                }
            ]
        },
        {
            "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": "0090013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090013"
                }
            ]
        },
        {
            "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": "0090013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090013"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21784-1",
            "uniprot_ac": "P21784",
            "uniprot_id": "RAG2_MOUSE",
            "refseq_ac": "NP_033046",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "V(D)J recombination-activating protein 2",
                    "type": "recommended"
                },
                {
                    "name": "RAG-2",
                    "type": "synonym"
                },
                {
                    "name": "V(D)J recombination-activating protein 2",
                    "type": "synonym"
                },
                {
                    "name": "recombinase activating gene 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rag2",
                    "type": "recommended"
                },
                {
                    "name": "Rag-2",
                    "type": "synonym"
                },
                {
                    "name": "Rag2",
                    "type": "synonym"
                }
            ],
            "record_id": "P21784-1",
            "evidence": [
                {
                    "id": "0090013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090013"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15919-1",
            "uniprot_ac": "P15919",
            "uniprot_id": "RAG1_MOUSE",
            "refseq_ac": "NP_033045",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "V(D)J recombination-activating protein 1",
                    "type": "recommended"
                },
                {
                    "name": "RAG-1",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RAG1",
                    "type": "synonym"
                },
                {
                    "name": "V(D)J recombination-activating protein 1",
                    "type": "synonym"
                },
                {
                    "name": "recombinase activating gene 1",
                    "type": "synonym"
                },
                {
                    "name": "recombination activating gene 1",
                    "type": "synonym"
                },
                {
                    "name": "recombination activating protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rag1",
                    "type": "recommended"
                },
                {
                    "name": "Rag-1",
                    "type": "synonym"
                },
                {
                    "name": "Rag1",
                    "type": "synonym"
                }
            ],
            "record_id": "P15919-1",
            "evidence": [
                {
                    "id": "0090013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090013"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15918-1",
            "uniprot_ac": "P15918",
            "uniprot_id": "RAG1_HUMAN",
            "refseq_ac": "NP_000439",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "V(D)J recombination-activating protein 1",
                    "type": "recommended"
                },
                {
                    "name": "RAG-1",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 74",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RAG1",
                    "type": "synonym"
                },
                {
                    "name": "V(D)J recombination-activating protein 1",
                    "type": "synonym"
                },
                {
                    "name": "recombination activating gene 1",
                    "type": "synonym"
                },
                {
                    "name": "recombination activating protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAG1",
                    "type": "recommended"
                },
                {
                    "name": "RAG-1",
                    "type": "synonym"
                },
                {
                    "name": "RAG1",
                    "type": "synonym"
                },
                {
                    "name": "RNF74",
                    "type": "synonym"
                }
            ],
            "record_id": "P15918-1",
            "evidence": [
                {
                    "id": "601457",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601457"
                },
                {
                    "id": "0090013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090013"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55895-1",
            "uniprot_ac": "P55895",
            "uniprot_id": "RAG2_HUMAN",
            "refseq_ac": "NP_000527",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "V(D)J recombination-activating protein 2",
                    "type": "recommended"
                },
                {
                    "name": "RAG-2",
                    "type": "synonym"
                },
                {
                    "name": "V(D)J recombination-activating protein 2",
                    "type": "synonym"
                },
                {
                    "name": "recombination activating gene 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAG2",
                    "type": "recommended"
                },
                {
                    "name": "RAG-2",
                    "type": "synonym"
                },
                {
                    "name": "RAG2",
                    "type": "synonym"
                }
            ],
            "record_id": "P55895-1",
            "evidence": [
                {
                    "id": "601457",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601457"
                },
                {
                    "id": "0090013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090013"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V6K9-1",
            "uniprot_ac": "G3V6K9",
            "uniprot_id": "G3V6K9_RAT",
            "refseq_ac": "NP_445920",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "V(D)J recombination-activating protein 1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "V(D)J recombination-activating protein 1",
                    "type": "synonym"
                },
                {
                    "name": "recombination activating gene 1",
                    "type": "synonym"
                },
                {
                    "name": "recombination activation protein 1",
                    "type": "synonym"
                },
                {
                    "name": "recombination-activating protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rag1",
                    "type": "recommended"
                },
                {
                    "name": "Rag1",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V6K9-1",
            "evidence": [
                {
                    "id": "0090013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090013"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V6K7-1",
            "uniprot_ac": "G3V6K7",
            "uniprot_id": "G3V6K7_RAT",
            "refseq_ac": "NP_001093998",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "V(D)J recombination-activating protein 2",
                    "type": "recommended"
                },
                {
                    "name": "V(D)J recombination-activating protein 2",
                    "type": "synonym"
                },
                {
                    "name": "recombination activating gene 2",
                    "type": "synonym"
                },
                {
                    "name": "recombination activating protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rag2",
                    "type": "recommended"
                },
                {
                    "name": "Rag2",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V6K7-1",
            "evidence": [
                {
                    "id": "0090013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090013"
                }
            ]
        },
        {
            "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": "0090013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090013"
                }
            ]
        },
        {
            "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": "0090013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090013"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090013"
}