{
    "disease_id": "DOID:0111986",
    "recommended_name": {
        "id": "DOID:0111986",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111986",
        "name": "immunodeficiency 32A",
        "description": "A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111986",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111986",
            "name": "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111986",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111986",
            "name": "MSMD due to partial interferon regulatory factor 8 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111986",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111986",
            "name": "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111986",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111986",
            "name": "IMD32A",
            "description": ""
        },
        {
            "id": "DOID:0111986",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111986",
            "name": "MSMD due to partial IRF8 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111986",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111986",
            "name": "immunodeficiency 32A, mycobacteriosis, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "name": "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency",
            "description": "A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG)."
        },
        {
            "id": "MONDO:0013957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "name": "IRF8 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "name": "MSMD due to partial IRF8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "name": "MSMD due to partial interferon regulatory factor 8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "name": "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "name": "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IRF8",
            "description": ""
        },
        {
            "id": "MONDO:0013957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "name": "immunodeficiency type 32A",
            "description": ""
        },
        {
            "id": "MONDO:0013957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "name": "IMD32A",
            "description": ""
        },
        {
            "id": "MONDO:0013957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "name": "immunodeficiency 32A",
            "description": ""
        },
        {
            "id": "MIM:614893",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614893",
            "name": "Immunodeficiency 32A",
            "description": "Immunodeficiency 32A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111986"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111986",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111986",
            "categories": []
        },
        {
            "id": "MONDO:0013957",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013957",
            "categories": []
        },
        {
            "id": "MIM:614893",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614893",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P23611-1",
            "uniprot_ac": "P23611",
            "uniprot_id": "IRF8_MOUSE",
            "refseq_ac": "NP_001288740",
            "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 8",
                    "type": "recommended"
                },
                {
                    "name": "ICSBP",
                    "type": "synonym"
                },
                {
                    "name": "IRF-8",
                    "type": "synonym"
                },
                {
                    "name": "Interferon consensus sequence-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "interferon consensus sequence binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "interferon consensus sequence-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Irf8",
                    "type": "recommended"
                },
                {
                    "name": "ICSBP",
                    "type": "synonym"
                },
                {
                    "name": "IRF-8",
                    "type": "synonym"
                },
                {
                    "name": "Icsbp1",
                    "type": "synonym"
                },
                {
                    "name": "Icsbp",
                    "type": "synonym"
                },
                {
                    "name": "Irf8",
                    "type": "synonym"
                },
                {
                    "name": "Myls",
                    "type": "synonym"
                }
            ],
            "record_id": "P23611-1",
            "evidence": [
                {
                    "id": "0111986",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111986"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02556-1",
            "uniprot_ac": "Q02556",
            "uniprot_id": "IRF8_HUMAN",
            "refseq_ac": "NP_002154",
            "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 8",
                    "type": "recommended"
                },
                {
                    "name": "H-ICSBP",
                    "type": "synonym"
                },
                {
                    "name": "ICSBP",
                    "type": "synonym"
                },
                {
                    "name": "IRF-8",
                    "type": "synonym"
                },
                {
                    "name": "Interferon consensus sequence-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "interferon consensus sequence binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 8 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IRF8",
                    "type": "recommended"
                },
                {
                    "name": "H-ICSBP",
                    "type": "synonym"
                },
                {
                    "name": "ICSBP1",
                    "type": "synonym"
                },
                {
                    "name": "ICSBP",
                    "type": "synonym"
                },
                {
                    "name": "IMD32A",
                    "type": "synonym"
                },
                {
                    "name": "IMD32B",
                    "type": "synonym"
                },
                {
                    "name": "IRF-8",
                    "type": "synonym"
                },
                {
                    "name": "IRF8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02556-1",
            "evidence": [
                {
                    "id": "614893",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614893"
                },
                {
                    "id": "0111986",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111986"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5Y754-1",
            "uniprot_ac": "A0A8I5Y754",
            "uniprot_id": "A0A8I5Y754_RAT",
            "refseq_ac": "",
            "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 8",
                    "type": "recommended"
                },
                {
                    "name": "Interferon consensus sequence-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Irf8",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5Y754-1",
            "evidence": [
                {
                    "id": "0111986",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111986"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111986"
}