{
    "disease_id": "DOID:0061125",
    "recommended_name": {
        "id": "DOID:0061125",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061125",
        "name": "immunodeficiency 131",
        "description": "A primary immunodeficiency disease that is characterized by low IgM, IgG, and IgA serum levels, low plasma cell counts, abnormal T-cell subsets, and early graying of hair that has_material_basis_in heterozygous or homozygous mutation in the IRF4 gene on chromosome 6p25."
    },
    "synonyms": [
        {
            "id": "MONDO:0976229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976229",
            "name": "immunodeficiency 131",
            "description": ""
        },
        {
            "id": "MIM:621097",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621097",
            "name": "Immunodeficiency 131",
            "description": "Immunodeficiency 131"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061125"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061125",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061125",
            "categories": []
        },
        {
            "id": "MONDO:0976229",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976229",
            "categories": []
        },
        {
            "id": "MIM:621097",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621097",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TE93-1",
            "uniprot_ac": "A0AB32TE93",
            "uniprot_id": "A0AB32TE93_DANRE",
            "refseq_ac": "XP_068071742",
            "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 4",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "irf4b",
                    "type": "recommended"
                },
                {
                    "name": "irf4b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TE93-1",
            "evidence": [
                {
                    "id": "0061125",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061125"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1NI50-1",
            "uniprot_ac": "A0A8M1NI50",
            "uniprot_id": "A0A8M1NI50_DANRE",
            "refseq_ac": "NP_001116182",
            "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 4a",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 4a",
                    "type": "synonym"
                },
                {
                    "name": "irf4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "irf4a",
                    "type": "recommended"
                },
                {
                    "name": "irf4a",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-170d1.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NI50-1",
            "evidence": [
                {
                    "id": "0061125",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061125"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64287-1",
            "uniprot_ac": "Q64287",
            "uniprot_id": "IRF4_MOUSE",
            "refseq_ac": "NP_001334437",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "IRF-4",
                    "type": "synonym"
                },
                {
                    "name": "LSIRF",
                    "type": "synonym"
                },
                {
                    "name": "Lymphocyte-specific interferon regulatory factor",
                    "type": "synonym"
                },
                {
                    "name": "NF-EM5",
                    "type": "synonym"
                },
                {
                    "name": "PU.1 interaction partner",
                    "type": "synonym"
                },
                {
                    "name": "Sfpi1/PU.1 interaction partner",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional activator PIP",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 4 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte-specific interferon regulatory factor",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional activator PIP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Irf4",
                    "type": "recommended"
                },
                {
                    "name": "IRF-4",
                    "type": "synonym"
                },
                {
                    "name": "Irf4",
                    "type": "synonym"
                },
                {
                    "name": "LSIRF",
                    "type": "synonym"
                },
                {
                    "name": "NF-EM5",
                    "type": "synonym"
                },
                {
                    "name": "Spip",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64287-1",
            "evidence": [
                {
                    "id": "0061125",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061125"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15306-1",
            "uniprot_ac": "Q15306",
            "uniprot_id": "IRF4_HUMAN",
            "refseq_ac": "NP_001182215",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "IRF-4",
                    "type": "synonym"
                },
                {
                    "name": "LSIRF",
                    "type": "synonym"
                },
                {
                    "name": "Lymphocyte-specific interferon regulatory factor",
                    "type": "synonym"
                },
                {
                    "name": "Multiple myeloma oncogene 1",
                    "type": "synonym"
                },
                {
                    "name": "NF-EM5",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte-specific interferon regulatory factor",
                    "type": "synonym"
                },
                {
                    "name": "multiple myeloma oncogene 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IRF4",
                    "type": "recommended"
                },
                {
                    "name": "IMD131",
                    "type": "synonym"
                },
                {
                    "name": "IRF4",
                    "type": "synonym"
                },
                {
                    "name": "LSIRF",
                    "type": "synonym"
                },
                {
                    "name": "MUM1",
                    "type": "synonym"
                },
                {
                    "name": "NF-EM5",
                    "type": "synonym"
                },
                {
                    "name": "SHEP8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15306-1",
            "evidence": [
                {
                    "id": "621097",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621097"
                },
                {
                    "id": "0061125",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061125"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZEX6-1",
            "uniprot_ac": "D3ZEX6",
            "uniprot_id": "D3ZEX6_RAT",
            "refseq_ac": "NP_001099578",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "Lymphocyte-specific interferon regulatory factor",
                    "type": "synonym"
                },
                {
                    "name": "NF-EM5",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Irf4",
                    "type": "recommended"
                },
                {
                    "name": "Irf4",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZEX6-1",
            "evidence": [
                {
                    "id": "0061125",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061125"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061125"
}