{
    "disease_id": "DOID:0111097",
    "recommended_name": {
        "id": "DOID:0111097",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111097",
        "name": "Fanconi anemia complementation group J",
        "description": "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22."
    },
    "synonyms": [
        {
            "id": "DOID:0111097",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111097",
            "name": "FANCJ",
            "description": ""
        },
        {
            "id": "MONDO:0012187",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012187",
            "name": "Fanconi anemia complementation group J",
            "description": "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein."
        },
        {
            "id": "MONDO:0012187",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012187",
            "name": "FANCJ",
            "description": ""
        },
        {
            "id": "MONDO:0012187",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012187",
            "name": "Fanconi Anemia, complementation group type J",
            "description": ""
        },
        {
            "id": "MONDO:0012187",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012187",
            "name": "Fanconi anaemia complementation group type J",
            "description": ""
        },
        {
            "id": "MONDO:0012187",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012187",
            "name": "Fanconi anemia complementation group J",
            "description": ""
        },
        {
            "id": "MONDO:0012187",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012187",
            "name": "Fanconi anemia complementation group type J",
            "description": ""
        },
        {
            "id": "MONDO:0012187",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012187",
            "name": "Fanconi anemia, complementation group J",
            "description": ""
        },
        {
            "id": "MIM:609054",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609054",
            "name": "Fanconi anemia complementation group J",
            "description": "Fanconi anemia complementation group J"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111097"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111097",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111097",
            "categories": []
        },
        {
            "id": "MONDO:0012187",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012187",
            "categories": []
        },
        {
            "id": "MIM:609054",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609054",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58HBS2-1",
            "uniprot_ac": "A0AC58HBS2",
            "uniprot_id": "A0AC58HBS2_DANRE",
            "refseq_ac": "XP_073779429",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA 5'-3' helicase",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-3' helicase FANCJ",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group J protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "brip1",
                    "type": "recommended"
                },
                {
                    "name": "brip1",
                    "type": "synonym"
                },
                {
                    "name": "fancj",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-158l18.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HBS2-1",
            "evidence": [
                {
                    "id": "0111097",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111097"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5SXJ3-1",
            "uniprot_ac": "Q5SXJ3",
            "uniprot_id": "FANCJ_MOUSE",
            "refseq_ac": "NP_840094",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fanconi anemia group J protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase BRIP1",
                    "type": "synonym"
                },
                {
                    "name": "BRCA1-associated C-terminal helicase 1",
                    "type": "synonym"
                },
                {
                    "name": "BRCA1-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "BRCA1-interacting protein C-terminal helicase 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-3' helicase FANCJ",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group J protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Brip1",
                    "type": "recommended"
                },
                {
                    "name": "3110009N10Rik",
                    "type": "synonym"
                },
                {
                    "name": "8030460J03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Bach1",
                    "type": "synonym"
                },
                {
                    "name": "Brip1",
                    "type": "synonym"
                },
                {
                    "name": "FACJ",
                    "type": "synonym"
                },
                {
                    "name": "Fancj",
                    "type": "synonym"
                },
                {
                    "name": "OF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SXJ3-1",
            "evidence": [
                {
                    "id": "0111097",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111097"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BX63-1",
            "uniprot_ac": "Q9BX63",
            "uniprot_id": "FANCJ_HUMAN",
            "refseq_ac": "NP_114432",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fanconi anemia group J protein",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase BRIP1",
                    "type": "synonym"
                },
                {
                    "name": "BRCA1 interacting helicase 1",
                    "type": "synonym"
                },
                {
                    "name": "BRCA1 interacting protein C-terminal helicase 1",
                    "type": "synonym"
                },
                {
                    "name": "BRCA1-associated C-terminal helicase 1",
                    "type": "synonym"
                },
                {
                    "name": "BRCA1-binding helicase-like protein BACH1",
                    "type": "synonym"
                },
                {
                    "name": "BRCA1-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "BRCA1-interacting protein C-terminal helicase 1",
                    "type": "synonym"
                },
                {
                    "name": "BRCA1/BRCA2-associated helicase 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-3' helicase FANCJ",
                    "type": "synonym"
                },
                {
                    "name": "FANCJ helicase",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group J protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BRIP1",
                    "type": "recommended"
                },
                {
                    "name": "BACH1",
                    "type": "synonym"
                },
                {
                    "name": "BRIP1",
                    "type": "synonym"
                },
                {
                    "name": "FANCJ",
                    "type": "synonym"
                },
                {
                    "name": "OF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BX63-1",
            "evidence": [
                {
                    "id": "609054",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609054"
                },
                {
                    "id": "0111097",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111097"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A096MJ28-1",
            "uniprot_ac": "A0A096MJ28",
            "uniprot_id": "A0A096MJ28_RAT",
            "refseq_ac": "XP_008766294",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "BRCA1 interacting helicase 1",
                    "type": "synonym"
                },
                {
                    "name": "integrator complex subunit 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Brip1",
                    "type": "recommended"
                },
                {
                    "name": "Ints2",
                    "type": "recommended"
                },
                {
                    "name": "Brip1",
                    "type": "synonym"
                },
                {
                    "name": "Ints2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1305547",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A096MJ28-1",
            "evidence": [
                {
                    "id": "0111097",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111097"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111097"
}