{
    "disease_id": "DOID:0061058",
    "recommended_name": {
        "id": "DOID:0061058",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061058",
        "name": "immunodeficiency 88",
        "description": "A primary immunodeficiency disease that is characterized by the development of disseminated mycobacterial disease following vaccination with BCG and that has_material_basis_in homozygous mutation in the TBX21 gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0030483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030483",
            "name": "immunodeficiency 88",
            "description": "An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines."
        },
        {
            "id": "MONDO:0030483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030483",
            "name": "IMD88",
            "description": ""
        },
        {
            "id": "MONDO:0030483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030483",
            "name": "Mendelian susceptibility to mycobacterial diseases due to TBX21 deficiency",
            "description": ""
        },
        {
            "id": "MIM:619630",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619630",
            "name": "Immunodeficiency 88",
            "description": "Immunodeficiency 88"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061058"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061058",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061058",
            "categories": []
        },
        {
            "id": "MONDO:0030483",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030483",
            "categories": []
        },
        {
            "id": "MIM:619630",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619630",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "D1YT98-1",
            "uniprot_ac": "D1YT98",
            "uniprot_id": "D1YT98_DANRE",
            "refseq_ac": "NP_001164070",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-bet",
                    "type": "synonym"
                },
                {
                    "name": "T-box 21 like",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tbx21",
                    "type": "recommended"
                },
                {
                    "name": "tbx21l",
                    "type": "synonym"
                },
                {
                    "name": "tbx21",
                    "type": "synonym"
                }
            ],
            "record_id": "D1YT98-1",
            "evidence": [
                {
                    "id": "0061058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061058"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JKD8-1",
            "uniprot_ac": "Q9JKD8",
            "uniprot_id": "TBX21_MOUSE",
            "refseq_ac": "NP_062380",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box transcription factor TBX21",
                    "type": "recommended"
                },
                {
                    "name": "T-box protein 21",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX21",
                    "type": "synonym"
                },
                {
                    "name": "T-cell-specific T-box transcription factor T-bet",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor TBLYM",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor TBLYM",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbx21",
                    "type": "recommended"
                },
                {
                    "name": "TBT1",
                    "type": "synonym"
                },
                {
                    "name": "Tbet",
                    "type": "synonym"
                },
                {
                    "name": "Tblym",
                    "type": "synonym"
                },
                {
                    "name": "Tbx21",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JKD8-1",
            "evidence": [
                {
                    "id": "0061058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061058"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UL17-1",
            "uniprot_ac": "Q9UL17",
            "uniprot_id": "TBX21_HUMAN",
            "refseq_ac": "NP_037483",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box transcription factor TBX21",
                    "type": "recommended"
                },
                {
                    "name": "T-box 21",
                    "type": "synonym"
                },
                {
                    "name": "T-box expressed in T cells",
                    "type": "synonym"
                },
                {
                    "name": "T-box protein 21",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX21",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor expressed in T cells",
                    "type": "synonym"
                },
                {
                    "name": "T-cell-specific T-box transcription factor T-bet",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor TBLYM",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor TBLYM",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TBX21",
                    "type": "recommended"
                },
                {
                    "name": "IMD88",
                    "type": "synonym"
                },
                {
                    "name": "T-PET",
                    "type": "synonym"
                },
                {
                    "name": "T-bet",
                    "type": "synonym"
                },
                {
                    "name": "TBET",
                    "type": "synonym"
                },
                {
                    "name": "TBLYM",
                    "type": "synonym"
                },
                {
                    "name": "TBX21",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UL17-1",
            "evidence": [
                {
                    "id": "619630",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619630"
                },
                {
                    "id": "0061058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061058"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZCM2-1",
            "uniprot_ac": "D3ZCM2",
            "uniprot_id": "D3ZCM2_RAT",
            "refseq_ac": "NP_001100513",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box transcription factor TBX21",
                    "type": "recommended"
                },
                {
                    "name": "T-bet",
                    "type": "synonym"
                },
                {
                    "name": "T-box 21",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX21",
                    "type": "synonym"
                },
                {
                    "name": "T-cell-specific T-box transcription factor T-bet",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor TBLYM",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbx21",
                    "type": "recommended"
                },
                {
                    "name": "Tbx21",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZCM2-1",
            "evidence": [
                {
                    "id": "0061058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061058"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061058"
}