{
    "disease_id": "DOID:0111954",
    "recommended_name": {
        "id": "DOID:0111954",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111954",
        "name": "immunodeficiency 60",
        "description": "A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15."
    },
    "synonyms": [
        {
            "id": "DOID:0111954",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111954",
            "name": "BACH2-related immunodeficiency and autoimmunity",
            "description": ""
        },
        {
            "id": "DOID:0111954",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111954",
            "name": "BRIDA",
            "description": ""
        },
        {
            "id": "DOID:0111954",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111954",
            "name": "IMD60",
            "description": ""
        },
        {
            "id": "MONDO:0032723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032723",
            "name": "immunodeficiency 60",
            "description": ""
        },
        {
            "id": "MONDO:0032723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032723",
            "name": "immunodeficiency 60 and autoimmunity",
            "description": ""
        },
        {
            "id": "MONDO:0032723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032723",
            "name": "IMD60",
            "description": ""
        },
        {
            "id": "MIM:618394",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618394",
            "name": "Immunodeficiency 60 and autoimmunity",
            "description": "Immunodeficiency 60 and autoimmunity"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111954"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111954",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111954",
            "categories": []
        },
        {
            "id": "MONDO:0032723",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032723",
            "categories": []
        },
        {
            "id": "MIM:618394",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618394",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58HR31-1",
            "uniprot_ac": "A0AC58HR31",
            "uniprot_id": "A0AC58HR31_DANRE",
            "refseq_ac": "XP_073784434",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription regulator protein BACH2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "transcription regulator protein BACH2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bach2a",
                    "type": "recommended"
                },
                {
                    "name": "bach2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HR31-1",
            "evidence": [
                {
                    "id": "0111954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5RIW6-1",
            "uniprot_ac": "Q5RIW6",
            "uniprot_id": "Q5RIW6_DANRE",
            "refseq_ac": "XP_005160605",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription regulator protein BACH2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "transcription regulator protein BACH2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bach2b",
                    "type": "recommended"
                },
                {
                    "name": "bach2b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RIW6-1",
            "evidence": [
                {
                    "id": "0111954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97303-1",
            "uniprot_ac": "P97303",
            "uniprot_id": "BACH2_MOUSE",
            "refseq_ac": "NP_001103131",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription regulator protein BACH2",
                    "type": "recommended"
                },
                {
                    "name": "BTB and CNC homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "BTB and CNC homology 2",
                    "type": "synonym"
                },
                {
                    "name": "Transcription regulator protein BACH2 (BTB and CNC homolog 2)",
                    "type": "synonym"
                },
                {
                    "name": "transcription regulator protein BACH2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bach2",
                    "type": "recommended"
                },
                {
                    "name": "Bach2",
                    "type": "synonym"
                },
                {
                    "name": "E030004N02Rik",
                    "type": "synonym"
                }
            ],
            "record_id": "P97303-1",
            "evidence": [
                {
                    "id": "0111954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BYV9-1",
            "uniprot_ac": "Q9BYV9",
            "uniprot_id": "BACH2_HUMAN",
            "refseq_ac": "NP_001164265",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription regulator protein BACH2",
                    "type": "recommended"
                },
                {
                    "name": "BTB and CNC homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "BTB and CNC homology 1, basic leucine zipper transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "BTB domain and CNC homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "transcription regulator protein BACH2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BACH2",
                    "type": "recommended"
                },
                {
                    "name": "BACH2",
                    "type": "synonym"
                },
                {
                    "name": "BTBD25",
                    "type": "synonym"
                },
                {
                    "name": "IMD60",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BYV9-1",
            "evidence": [
                {
                    "id": "618394",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618394"
                },
                {
                    "id": "0111954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZW33-1",
            "uniprot_ac": "D3ZW33",
            "uniprot_id": "D3ZW33_RAT",
            "refseq_ac": "NP_001129226",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "BTB and CNC homology 1, basic leucine zipper transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "BTB and CNC homology 2",
                    "type": "synonym"
                },
                {
                    "name": "BTB domain and CNC homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "transcription regulator protein BACH2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bach2",
                    "type": "recommended"
                },
                {
                    "name": "Bach2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1562865",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZW33-1",
            "evidence": [
                {
                    "id": "0111954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111954"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111954"
}