{
    "disease_id": "DOID:0111956",
    "recommended_name": {
        "id": "DOID:0111956",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111956",
        "name": "immunodeficiency 27B",
        "description": "A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111956",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111956",
            "name": "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111956",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111956",
            "name": "IMD27B",
            "description": ""
        },
        {
            "id": "DOID:0111956",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111956",
            "name": "autosomal dominant IFNGR1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111956",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111956",
            "name": "autosomal dominant MSMD due to partial IFNgammaR1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111956",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111956",
            "name": "autosomal dominant immunodeficiency 27B, mycobacteriosis",
            "description": ""
        },
        {
            "id": "DOID:0111956",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111956",
            "name": "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111956",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111956",
            "name": "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency",
            "description": "A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)."
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "IFNGR1 deficiency, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "IMD27B",
            "description": ""
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "autosomal dominant MSMD due to partial IFNgammaR1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1",
            "description": ""
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "immunodeficiency 27B",
            "description": ""
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "immunodeficiency 27B, Mycobacteriosis, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "immunodeficiency 27B, mycobacteriosis, AD",
            "description": ""
        },
        {
            "id": "MONDO:0014429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "name": "immunodeficiency type 27B",
            "description": ""
        },
        {
            "id": "MIM:615978",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615978",
            "name": "Immunodeficiency 27B",
            "description": "Immunodeficiency 27B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111956"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111956",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111956",
            "categories": []
        },
        {
            "id": "MONDO:0014429",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014429",
            "categories": []
        },
        {
            "id": "MIM:615978",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615978",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NVW3-1",
            "uniprot_ac": "A0A8M1NVW3",
            "uniprot_id": "A0A8M1NVW3_DANRE",
            "refseq_ac": "NP_001165060",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 10b precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytokine receptor family member b13",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 10b precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ifngr1l",
                    "type": "recommended"
                },
                {
                    "name": "crfb13",
                    "type": "synonym"
                },
                {
                    "name": "ifngr1-1",
                    "type": "synonym"
                },
                {
                    "name": "ifngr1-2",
                    "type": "synonym"
                },
                {
                    "name": "ifngr1ll",
                    "type": "synonym"
                },
                {
                    "name": "ifngr1l",
                    "type": "synonym"
                },
                {
                    "name": "ifngr1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-165e15.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NVW3-1",
            "evidence": [
                {
                    "id": "0111956",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111956"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15261-1",
            "uniprot_ac": "P15261",
            "uniprot_id": "INGR1_MOUSE",
            "refseq_ac": "NP_034641",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon gamma receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "IFN-gamma receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "IFN-gamma-R-alpha",
                    "type": "synonym"
                },
                {
                    "name": "IFN-gamma-R1",
                    "type": "synonym"
                },
                {
                    "name": "INF-g receptor",
                    "type": "synonym"
                },
                {
                    "name": "Interferon gamma receptor alpha-chain",
                    "type": "synonym"
                },
                {
                    "name": "interferon gamma receptor 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "interferon gamma receptor alpha-chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ifngr1",
                    "type": "recommended"
                },
                {
                    "name": "CD119",
                    "type": "synonym"
                },
                {
                    "name": "IFN-gammaR",
                    "type": "synonym"
                },
                {
                    "name": "Ifgr",
                    "type": "synonym"
                },
                {
                    "name": "Ifngr1",
                    "type": "synonym"
                },
                {
                    "name": "Ifngr",
                    "type": "synonym"
                },
                {
                    "name": "Nktar",
                    "type": "synonym"
                }
            ],
            "record_id": "P15261-1",
            "evidence": [
                {
                    "id": "0111956",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111956"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15260-1",
            "uniprot_ac": "P15260",
            "uniprot_id": "INGR1_HUMAN",
            "refseq_ac": "NP_000407",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon gamma receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "AVP, type 2",
                    "type": "synonym"
                },
                {
                    "name": "CD119 antigen",
                    "type": "synonym"
                },
                {
                    "name": "CDw119",
                    "type": "synonym"
                },
                {
                    "name": "IFN-gamma receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "IFN-gamma-R-alpha",
                    "type": "synonym"
                },
                {
                    "name": "IFN-gamma-R1",
                    "type": "synonym"
                },
                {
                    "name": "Interferon gamma receptor alpha-chain",
                    "type": "synonym"
                },
                {
                    "name": "antiviral protein, type 2",
                    "type": "synonym"
                },
                {
                    "name": "immune interferon receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "interferon gamma receptor 1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "interferon-gamma receptor alpha chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IFNGR1",
                    "type": "recommended"
                },
                {
                    "name": "CD119",
                    "type": "synonym"
                },
                {
                    "name": "IFNGR1",
                    "type": "synonym"
                },
                {
                    "name": "IFNGR",
                    "type": "synonym"
                },
                {
                    "name": "IMD27A",
                    "type": "synonym"
                },
                {
                    "name": "IMD27B",
                    "type": "synonym"
                }
            ],
            "record_id": "P15260-1",
            "evidence": [
                {
                    "id": "615978",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615978"
                },
                {
                    "id": "0111956",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111956"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7FHZ1-1",
            "uniprot_ac": "F7FHZ1",
            "uniprot_id": "F7FHZ1_RAT",
            "refseq_ac": "NP_446235",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon gamma receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "Interferon gamma receptor alpha-chain",
                    "type": "synonym"
                },
                {
                    "name": "interferon gamma receptor 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ifngr1",
                    "type": "recommended"
                },
                {
                    "name": "Ifngr1",
                    "type": "synonym"
                },
                {
                    "name": "Ifngr",
                    "type": "synonym"
                }
            ],
            "record_id": "F7FHZ1-1",
            "evidence": [
                {
                    "id": "0111956",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111956"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111956"
}