{
    "disease_id": "DOID:0111978",
    "recommended_name": {
        "id": "DOID:0111978",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111978",
        "name": "immunodeficiency 65",
        "description": "A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in the IRF9 gene on chromosome 14q12."
    },
    "synonyms": [
        {
            "id": "DOID:0111978",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111978",
            "name": "IMD65",
            "description": ""
        },
        {
            "id": "DOID:0111978",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111978",
            "name": "immunodeficiency 65, susceptibility to viral infections",
            "description": ""
        },
        {
            "id": "MONDO:0032848",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032848",
            "name": "immunodeficiency 65, susceptibility to viral infections",
            "description": ""
        },
        {
            "id": "MONDO:0032848",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032848",
            "name": "IMD65",
            "description": ""
        },
        {
            "id": "MIM:618648",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618648",
            "name": "Immunodeficiency 65",
            "description": "Immunodeficiency 65"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111978"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111978",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111978",
            "categories": []
        },
        {
            "id": "MONDO:0032848",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032848",
            "categories": []
        },
        {
            "id": "MIM:618648",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618648",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B248-1",
            "uniprot_ac": "A0A8M2B248",
            "uniprot_id": "A0A8M2B248_DANRE",
            "refseq_ac": "NP_991273",
            "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 9",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "irf9",
                    "type": "recommended"
                },
                {
                    "name": "ISGF3G",
                    "type": "synonym"
                },
                {
                    "name": "irf9",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92097",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B248-1",
            "evidence": [
                {
                    "id": "0111978",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111978"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61179-1",
            "uniprot_ac": "Q61179",
            "uniprot_id": "IRF9_MOUSE",
            "refseq_ac": "NP_001152889",
            "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 9",
                    "type": "recommended"
                },
                {
                    "name": "IFN-alpha-responsive transcription factor subunit",
                    "type": "synonym"
                },
                {
                    "name": "IRF-9",
                    "type": "synonym"
                },
                {
                    "name": "ISGF-3 gamma",
                    "type": "synonym"
                },
                {
                    "name": "ISGF3 p48 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Interferon-stimulated gene factor 3 gamma",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional regulator ISGF3 subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "interferon dependent positive acting transcription factor 3 gamma",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 9 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "interferon-stimulated gene factor 3 gamma",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional regulator ISGF3 subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Irf9",
                    "type": "recommended"
                },
                {
                    "name": "Irf-9",
                    "type": "synonym"
                },
                {
                    "name": "Irf9",
                    "type": "synonym"
                },
                {
                    "name": "Isgf3g",
                    "type": "synonym"
                },
                {
                    "name": "p48",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61179-1",
            "evidence": [
                {
                    "id": "0111978",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111978"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00978-1",
            "uniprot_ac": "Q00978",
            "uniprot_id": "IRF9_HUMAN",
            "refseq_ac": "NP_006075",
            "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 9",
                    "type": "recommended"
                },
                {
                    "name": "IFN-alpha-responsive transcription factor subunit",
                    "type": "synonym"
                },
                {
                    "name": "IRF-9",
                    "type": "synonym"
                },
                {
                    "name": "ISGF-3 gamma",
                    "type": "synonym"
                },
                {
                    "name": "ISGF3 p48 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Interferon-stimulated gene factor 3 gamma",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional regulator ISGF3 subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 9 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "interferon-stimulated gene factor 3 gamma",
                    "type": "synonym"
                },
                {
                    "name": "interferon-stimulated transcription factor 3, gamma (48kD)",
                    "type": "synonym"
                },
                {
                    "name": "interferon-stimulated transcription factor 3, gamma 48kDa",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional regulator ISGF3 subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IRF9",
                    "type": "recommended"
                },
                {
                    "name": "IRF-9",
                    "type": "synonym"
                },
                {
                    "name": "IRF9",
                    "type": "synonym"
                },
                {
                    "name": "ISGF3G",
                    "type": "synonym"
                },
                {
                    "name": "ISGF3",
                    "type": "synonym"
                },
                {
                    "name": "p48",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00978-1",
            "evidence": [
                {
                    "id": "618648",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618648"
                },
                {
                    "id": "0111978",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111978"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZQE9-1",
            "uniprot_ac": "A0A8I5ZQE9",
            "uniprot_id": "A0A8I5ZQE9_RAT",
            "refseq_ac": "XP_006252036",
            "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 9",
                    "type": "recommended"
                },
                {
                    "name": "IFN-alpha-responsive transcription factor subunit",
                    "type": "synonym"
                },
                {
                    "name": "ISGF3 p48 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Interferon-stimulated gene factor 3 gamma",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional regulator ISGF3 subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 9 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Irf9",
                    "type": "recommended"
                },
                {
                    "name": "Irf9",
                    "type": "synonym"
                },
                {
                    "name": "Isgf3g",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZQE9-1",
            "evidence": [
                {
                    "id": "0111978",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111978"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111978"
}