{
    "disease_id": "DOID:0061083",
    "recommended_name": {
        "id": "DOID:0061083",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061083",
        "name": "immunodeficiency 117",
        "description": "A T cell and NK cell immunodeficiency that is characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood and that has_material_basis_in homozygous mutation in the IRF1 gene on chromosome 5q31."
    },
    "synonyms": [
        {
            "id": "MONDO:0958011",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958011",
            "name": "immunodeficiency 117",
            "description": ""
        },
        {
            "id": "MIM:620668",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620668",
            "name": "Immunodeficiency 117",
            "description": "Immunodeficiency 117"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061083"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061083",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061083",
            "categories": []
        },
        {
            "id": "MONDO:0958011",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958011",
            "categories": []
        },
        {
            "id": "MIM:620668",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620668",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PKC4-1",
            "uniprot_ac": "A0A8M1PKC4",
            "uniprot_id": "A0A8M1PKC4_DANRE",
            "refseq_ac": "NP_991310",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon regulatory factor",
                    "type": "recommended"
                },
                {
                    "name": "interferon regulatory factor 11",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "irf1b",
                    "type": "recommended"
                },
                {
                    "name": "IRF1",
                    "type": "synonym"
                },
                {
                    "name": "irf11",
                    "type": "synonym"
                },
                {
                    "name": "irf1b",
                    "type": "synonym"
                },
                {
                    "name": "sb:eu922",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103566",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PKC4-1",
            "evidence": [
                {
                    "id": "0061083",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061083"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15314-1",
            "uniprot_ac": "P15314",
            "uniprot_id": "IRF1_MOUSE",
            "refseq_ac": "NP_001152868",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon regulatory factor 1",
                    "type": "recommended"
                },
                {
                    "name": "IRF-1",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 1 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Irf1",
                    "type": "recommended"
                },
                {
                    "name": "Irf-1",
                    "type": "synonym"
                },
                {
                    "name": "Irf1",
                    "type": "synonym"
                }
            ],
            "record_id": "P15314-1",
            "evidence": [
                {
                    "id": "0061083",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061083"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10914-1",
            "uniprot_ac": "P10914",
            "uniprot_id": "IRF1_HUMAN",
            "refseq_ac": "NP_002189",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon regulatory factor 1",
                    "type": "recommended"
                },
                {
                    "name": "IRF-1",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IRF1",
                    "type": "recommended"
                },
                {
                    "name": "IMD117",
                    "type": "synonym"
                },
                {
                    "name": "IRF-1",
                    "type": "synonym"
                },
                {
                    "name": "IRF1",
                    "type": "synonym"
                },
                {
                    "name": "MAR",
                    "type": "synonym"
                }
            ],
            "record_id": "P10914-1",
            "evidence": [
                {
                    "id": "620668",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620668"
                },
                {
                    "id": "0061083",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061083"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23570-1",
            "uniprot_ac": "P23570",
            "uniprot_id": "IRF1_RAT",
            "refseq_ac": "NP_036723",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon regulatory factor 1",
                    "type": "recommended"
                },
                {
                    "name": "IRF-1",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Irf1",
                    "type": "recommended"
                },
                {
                    "name": "Irf1",
                    "type": "synonym"
                }
            ],
            "record_id": "P23570-1",
            "evidence": [
                {
                    "id": "0061083",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061083"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061083"
}