{
    "disease_id": "DOID:0111969",
    "recommended_name": {
        "id": "DOID:0111969",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111969",
        "name": "immunodeficiency 39",
        "description": "A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in the IRF7 gene on chromosome 11p15.5."
    },
    "synonyms": [
        {
            "id": "DOID:0111969",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111969",
            "name": "IMD39",
            "description": ""
        },
        {
            "id": "MONDO:0014597",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014597",
            "name": "immunodeficiency 39",
            "description": "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene."
        },
        {
            "id": "MONDO:0014597",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014597",
            "name": "IRF7 primary immunodeficiency disease",
            "description": ""
        },
        {
            "id": "MONDO:0014597",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014597",
            "name": "immunodeficiency 39",
            "description": ""
        },
        {
            "id": "MONDO:0014597",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014597",
            "name": "immunodeficiency type 39",
            "description": ""
        },
        {
            "id": "MONDO:0014597",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014597",
            "name": "predisposition to severe viral infection due to IRF7 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014597",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014597",
            "name": "primary immunodeficiency disease caused by mutation in IRF7",
            "description": ""
        },
        {
            "id": "MONDO:0014597",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014597",
            "name": "IMD39",
            "description": ""
        },
        {
            "id": "MIM:616345",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616345",
            "name": "Immunodeficiency 39, susceptibility to viral infections",
            "description": "Immunodeficiency 39, susceptibility to viral infections"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111969"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111969",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111969",
            "categories": []
        },
        {
            "id": "MONDO:0014597",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014597",
            "categories": []
        },
        {
            "id": "MIM:616345",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616345",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QNG2-1",
            "uniprot_ac": "F1QNG2",
            "uniprot_id": "F1QNG2_DANRE",
            "refseq_ac": "NP_956971",
            "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 7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 7 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "irf7",
                    "type": "recommended"
                },
                {
                    "name": "irf7",
                    "type": "synonym"
                },
                {
                    "name": "wu:fl24c03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66043",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77947",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QNG2-1",
            "evidence": [
                {
                    "id": "0111969",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111969"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70434-1",
            "uniprot_ac": "P70434",
            "uniprot_id": "IRF7_MOUSE",
            "refseq_ac": "NP_058546",
            "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 7",
                    "type": "recommended"
                },
                {
                    "name": "IRF-7",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 7 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Irf7",
                    "type": "recommended"
                },
                {
                    "name": "Irf7",
                    "type": "synonym"
                }
            ],
            "record_id": "P70434-1",
            "evidence": [
                {
                    "id": "0111969",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111969"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92985-1",
            "uniprot_ac": "Q92985",
            "uniprot_id": "IRF7_HUMAN",
            "refseq_ac": "NP_001563",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon regulatory factor 7",
                    "type": "recommended"
                },
                {
                    "name": "IRF-7",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 7 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor-7H",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IRF7",
                    "type": "recommended"
                },
                {
                    "name": "IMD39",
                    "type": "synonym"
                },
                {
                    "name": "IRF-7H",
                    "type": "synonym"
                },
                {
                    "name": "IRF-7",
                    "type": "synonym"
                },
                {
                    "name": "IRF7A",
                    "type": "synonym"
                },
                {
                    "name": "IRF7B",
                    "type": "synonym"
                },
                {
                    "name": "IRF7C",
                    "type": "synonym"
                },
                {
                    "name": "IRF7H",
                    "type": "synonym"
                },
                {
                    "name": "IRF7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92985-1",
            "evidence": [
                {
                    "id": "616345",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616345"
                },
                {
                    "id": "0111969",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111969"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111969"
}