{
    "disease_id": "DOID:0061090",
    "recommended_name": {
        "id": "DOID:0061090",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061090",
        "name": "severe combined immunodeficiency 124",
        "description": "A severe combined immunodeficiency that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the NHEJ1 gene on chromosome 2q35."
    },
    "synonyms": [
        {
            "id": "MONDO:0012650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "name": "Cernunnos-XLF deficiency",
            "description": "Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia."
        },
        {
            "id": "MONDO:0012650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "name": "Cernunnos XLFD",
            "description": ""
        },
        {
            "id": "MONDO:0012650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "name": "Cernunnos deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "name": "Cernunnos-XLF deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "name": "NHEJ1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "name": "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "name": "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "name": "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionising radiation due to Nhej1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "name": "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionising radiation",
            "description": ""
        },
        {
            "id": "MONDO:0012650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "name": "severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionising radiation",
            "description": ""
        },
        {
            "id": "MONDO:0012650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "name": "severe combined immunodeficiency with sensitivity to ionising radiation due to Nhej1 deficiency",
            "description": ""
        },
        {
            "id": "MIM:611291",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611291",
            "name": "Immunodeficiency 124, severe combined",
            "description": "Immunodeficiency 124, severe combined"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061090"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061090",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061090",
            "categories": []
        },
        {
            "id": "MONDO:0012650",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "categories": []
        },
        {
            "id": "MIM:611291",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611291",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6NV18-1",
            "uniprot_ac": "Q6NV18",
            "uniprot_id": "NHEJ1_DANRE",
            "refseq_ac": "NP_999914",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Non-homologous end-joining factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Protein cernunnos",
                    "type": "synonym"
                },
                {
                    "name": "XRCC4-like factor",
                    "type": "synonym"
                },
                {
                    "name": "non-homologous end-joining factor 1",
                    "type": "synonym"
                },
                {
                    "name": "protein cernunnos",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nhej1",
                    "type": "recommended"
                },
                {
                    "name": "nhej1",
                    "type": "synonym"
                },
                {
                    "name": "xlf",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85657",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NV18-1",
            "evidence": [
                {
                    "id": "0061090",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061090"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3KNJ2-1",
            "uniprot_ac": "Q3KNJ2",
            "uniprot_id": "NHEJ1_MOUSE",
            "refseq_ac": "NP_083618",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Non-homologous end-joining factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Protein cernunnos",
                    "type": "synonym"
                },
                {
                    "name": "XRCC4-like factor",
                    "type": "synonym"
                },
                {
                    "name": "non-homologous end-joining factor 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "nonhomologous end-joining factor 1",
                    "type": "synonym"
                },
                {
                    "name": "protein cernunnos",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nhej1",
                    "type": "recommended"
                },
                {
                    "name": "1700029B21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Nhej1",
                    "type": "synonym"
                },
                {
                    "name": "XLF",
                    "type": "synonym"
                },
                {
                    "name": "Xlf",
                    "type": "synonym"
                },
                {
                    "name": "cernunnos",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3KNJ2-1",
            "evidence": [
                {
                    "id": "0061090",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061090"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H9Q4-1",
            "uniprot_ac": "Q9H9Q4",
            "uniprot_id": "NHEJ1_HUMAN",
            "refseq_ac": "NP_079058",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Non-homologous end-joining factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Protein cernunnos",
                    "type": "synonym"
                },
                {
                    "name": "XRCC4-like factor",
                    "type": "synonym"
                },
                {
                    "name": "non-homologous end-joining factor 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "nonhomologous end-joining factor 1",
                    "type": "synonym"
                },
                {
                    "name": "protein cernunnos",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NHEJ1",
                    "type": "recommended"
                },
                {
                    "name": "IMD124",
                    "type": "synonym"
                },
                {
                    "name": "MCOPCB13",
                    "type": "synonym"
                },
                {
                    "name": "NHEJ1",
                    "type": "synonym"
                },
                {
                    "name": "XLF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H9Q4-1",
            "evidence": [
                {
                    "id": "611291",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611291"
                },
                {
                    "id": "0061090",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061090"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AYI4-1",
            "uniprot_ac": "Q6AYI4",
            "uniprot_id": "NHEJ1_RAT",
            "refseq_ac": "NP_001014239",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Non-homologous end-joining factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Protein cernunnos",
                    "type": "synonym"
                },
                {
                    "name": "XRCC4-like factor",
                    "type": "synonym"
                },
                {
                    "name": "non-homologous end-joining factor 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "non-homologous end-joining factor 1",
                    "type": "synonym"
                },
                {
                    "name": "protein cernunnos",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nhej1",
                    "type": "recommended"
                },
                {
                    "name": "Nhej1",
                    "type": "synonym"
                },
                {
                    "name": "Xlf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AYI4-1",
            "evidence": [
                {
                    "id": "0061090",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061090"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W455-1",
            "uniprot_ac": "Q9W455",
            "uniprot_id": "Q9W455_DROME",
            "refseq_ac": "NP_001284918",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG12728-PB",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "X-ray repair cross-complementing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "XRCC4",
                    "type": "recommended"
                },
                {
                    "name": "CG12728",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12728",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12728",
                    "type": "synonym"
                },
                {
                    "name": "XLF1",
                    "type": "synonym"
                },
                {
                    "name": "XRCC4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W455-1",
            "evidence": [
                {
                    "id": "0061090",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061090"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061090"
}