{
    "disease_id": "DOID:0111995",
    "recommended_name": {
        "id": "DOID:0111995",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111995",
        "name": "immunodeficiency 28",
        "description": "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111995",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111995",
            "name": "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111995",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111995",
            "name": "MSMD due to complete interferon gamma receptor 2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111995",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111995",
            "name": "IFNGR2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111995",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111995",
            "name": "IMD28",
            "description": ""
        },
        {
            "id": "DOID:0111995",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111995",
            "name": "MSMD due to complete IFNgammaR2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111995",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111995",
            "name": "immunodeficiency 28, mycobacteriosis",
            "description": ""
        },
        {
            "id": "DOID:0111995",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111995",
            "name": "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013953",
            "name": "immunodeficiency 28",
            "description": "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene."
        },
        {
            "id": "MONDO:0013953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013953",
            "name": "IFNGR2 primary immunodeficiency disease",
            "description": ""
        },
        {
            "id": "MONDO:0013953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013953",
            "name": "immunodeficiency 28",
            "description": ""
        },
        {
            "id": "MONDO:0013953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013953",
            "name": "immunodeficiency type 28",
            "description": ""
        },
        {
            "id": "MONDO:0013953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013953",
            "name": "primary immunodeficiency disease caused by mutation in IFNGR2",
            "description": ""
        },
        {
            "id": "MONDO:0013953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013953",
            "name": "IMD28",
            "description": ""
        },
        {
            "id": "MIM:614889",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614889",
            "name": "Immunodeficiency 28",
            "description": "Immunodeficiency 28"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111995"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111995",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111995",
            "categories": []
        },
        {
            "id": "MONDO:0013953",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013953",
            "categories": []
        },
        {
            "id": "MIM:614889",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614889",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NC30-1",
            "uniprot_ac": "A0A8M1NC30",
            "uniprot_id": "A0A8M1NC30_DANRE",
            "refseq_ac": "NP_001071095",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon gamma receptor 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytokine receptor family member b6",
                    "type": "synonym"
                },
                {
                    "name": "interferon gamma receptor 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ifngr2",
                    "type": "recommended"
                },
                {
                    "name": "crfb6",
                    "type": "synonym"
                },
                {
                    "name": "fi29f07",
                    "type": "synonym"
                },
                {
                    "name": "ifngr2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-254o18.4",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi29f07",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NC30-1",
            "evidence": [
                {
                    "id": "0111995",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111995"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63953-1",
            "uniprot_ac": "Q63953",
            "uniprot_id": "Q63953_MOUSE",
            "refseq_ac": "NP_032364",
            "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 2",
                    "type": "synonym"
                },
                {
                    "name": "interferon gamma receptor 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ifngr2",
                    "type": "recommended"
                },
                {
                    "name": "Ifgr2",
                    "type": "synonym"
                },
                {
                    "name": "Ifgt",
                    "type": "synonym"
                },
                {
                    "name": "Ifngr2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63953-1",
            "evidence": [
                {
                    "id": "0111995",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111995"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38484-1",
            "uniprot_ac": "P38484",
            "uniprot_id": "INGR2_HUMAN",
            "refseq_ac": "NP_005525",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "AF-1",
                    "type": "synonym"
                },
                {
                    "name": "IFN-gamma receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "IFN-gamma-R-beta",
                    "type": "synonym"
                },
                {
                    "name": "IFN-gamma-R2",
                    "type": "synonym"
                },
                {
                    "name": "Interferon gamma receptor accessory factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Interferon gamma receptor beta-chain",
                    "type": "synonym"
                },
                {
                    "name": "Interferon gamma transducer 1",
                    "type": "synonym"
                },
                {
                    "name": "interferon gamma receptor 2 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "interferon gamma receptor accessory factor-1",
                    "type": "synonym"
                },
                {
                    "name": "interferon gamma receptor beta chain",
                    "type": "synonym"
                },
                {
                    "name": "interferon gamma transducer 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IFNGR2",
                    "type": "recommended"
                },
                {
                    "name": "AF-1",
                    "type": "synonym"
                },
                {
                    "name": "IFGR2",
                    "type": "synonym"
                },
                {
                    "name": "IFNGR2",
                    "type": "synonym"
                },
                {
                    "name": "IFNGT1",
                    "type": "synonym"
                },
                {
                    "name": "IMD28",
                    "type": "synonym"
                }
            ],
            "record_id": "P38484-1",
            "evidence": [
                {
                    "id": "614889",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614889"
                },
                {
                    "id": "0111995",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111995"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A109-1",
            "uniprot_ac": "D4A109",
            "uniprot_id": "D4A109_RAT",
            "refseq_ac": "NP_001101783",
            "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 2",
                    "type": "synonym"
                },
                {
                    "name": "interferon gamma receptor 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ifngr2",
                    "type": "recommended"
                },
                {
                    "name": "Ifngr2",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A109-1",
            "evidence": [
                {
                    "id": "0111995",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111995"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111995"
}