{
    "disease_id": "DOID:0111085",
    "recommended_name": {
        "id": "DOID:0111085",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111085",
        "name": "Fanconi anemia complementation group U",
        "description": "A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36."
    },
    "synonyms": [
        {
            "id": "DOID:0111085",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111085",
            "name": "FANCU",
            "description": ""
        },
        {
            "id": "MONDO:0014987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014987",
            "name": "Fanconi anemia complementation group U",
            "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene."
        },
        {
            "id": "MONDO:0014987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014987",
            "name": "FANCU",
            "description": ""
        },
        {
            "id": "MONDO:0014987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014987",
            "name": "Fanconi Anemia, complementation group U",
            "description": ""
        },
        {
            "id": "MONDO:0014987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014987",
            "name": "Fanconi Anemia, complementation group type U",
            "description": ""
        },
        {
            "id": "MONDO:0014987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014987",
            "name": "Fanconi anaemia caused by mutation in XRCC2",
            "description": ""
        },
        {
            "id": "MONDO:0014987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014987",
            "name": "Fanconi anaemia complementation group type U",
            "description": ""
        },
        {
            "id": "MONDO:0014987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014987",
            "name": "Fanconi anemia caused by mutation in XRCC2",
            "description": ""
        },
        {
            "id": "MONDO:0014987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014987",
            "name": "Fanconi anemia complementation group type U",
            "description": ""
        },
        {
            "id": "MONDO:0014987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014987",
            "name": "XRCC2 Fanconi anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0014987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014987",
            "name": "XRCC2 Fanconi anemia",
            "description": ""
        },
        {
            "id": "MIM:617247",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617247",
            "name": "Fanconi anemia, complementation group U",
            "description": "Fanconi anemia, complementation group U"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111085"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111085",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111085",
            "categories": []
        },
        {
            "id": "MONDO:0014987",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014987",
            "categories": []
        },
        {
            "id": "MIM:617247",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617247",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13A3Z0-1",
            "uniprot_ac": "A0AB13A3Z0",
            "uniprot_id": "A0AB13A3Z0_DANRE",
            "refseq_ac": "NP_001373407",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA repair protein XRCC2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "X-ray repair complementing defective repair in Chinese hamster cells 2",
                    "type": "synonym"
                },
                {
                    "name": "X-ray repair cross complementing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "xrcc2",
                    "type": "recommended"
                },
                {
                    "name": "xrcc2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A3Z0-1",
            "evidence": [
                {
                    "id": "0111085",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111085"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CX47-1",
            "uniprot_ac": "Q9CX47",
            "uniprot_id": "XRCC2_MOUSE",
            "refseq_ac": "NP_065595",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA repair protein XRCC2",
                    "type": "recommended"
                },
                {
                    "name": "DNA repair protein XRCC2",
                    "type": "synonym"
                },
                {
                    "name": "X-ray repair complementing defective repair in Chinese hamster cells 2",
                    "type": "synonym"
                },
                {
                    "name": "X-ray repair cross-complementing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "recA/RAD51 family protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Xrcc2",
                    "type": "recommended"
                },
                {
                    "name": "4921524O04Rik",
                    "type": "synonym"
                },
                {
                    "name": "8030409M04Rik",
                    "type": "synonym"
                },
                {
                    "name": "RAD51",
                    "type": "synonym"
                },
                {
                    "name": "RecA",
                    "type": "synonym"
                },
                {
                    "name": "Xrcc2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CX47-1",
            "evidence": [
                {
                    "id": "0111085",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111085"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43543-1",
            "uniprot_ac": "O43543",
            "uniprot_id": "XRCC2_HUMAN",
            "refseq_ac": "NP_005422",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA repair protein XRCC2",
                    "type": "recommended"
                },
                {
                    "name": "DNA repair protein XRCC2",
                    "type": "synonym"
                },
                {
                    "name": "X-ray repair complementing defective repair in Chinese hamster cells 2",
                    "type": "synonym"
                },
                {
                    "name": "X-ray repair cross-complementing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "XRCC2",
                    "type": "recommended"
                },
                {
                    "name": "FANCU",
                    "type": "synonym"
                },
                {
                    "name": "POF17",
                    "type": "synonym"
                },
                {
                    "name": "SPGF50",
                    "type": "synonym"
                },
                {
                    "name": "XRCC2",
                    "type": "synonym"
                }
            ],
            "record_id": "O43543-1",
            "evidence": [
                {
                    "id": "617247",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617247"
                },
                {
                    "id": "0111085",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111085"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZPC8-1",
            "uniprot_ac": "D3ZPC8",
            "uniprot_id": "D3ZPC8_RAT",
            "refseq_ac": "NP_001102685",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA repair protein XRCC2",
                    "type": "synonym"
                },
                {
                    "name": "X-ray repair complementing defective repair in Chinese hamster cells 2",
                    "type": "synonym"
                },
                {
                    "name": "X-ray repair cross complementing 2",
                    "type": "synonym"
                },
                {
                    "name": "X-ray repair cross complementing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Xrcc2",
                    "type": "recommended"
                },
                {
                    "name": "RGD1564823",
                    "type": "synonym"
                },
                {
                    "name": "Xrcc2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZPC8-1",
            "evidence": [
                {
                    "id": "0111085",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111085"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VWT5-1",
            "uniprot_ac": "Q9VWT5",
            "uniprot_id": "Q9VWT5_DROME",
            "refseq_ac": "NP_573302",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG6318-PA",
                    "type": "synonym"
                },
                {
                    "name": "Rad51D",
                    "type": "synonym"
                },
                {
                    "name": "X-ray repair cross complementing 2",
                    "type": "synonym"
                },
                {
                    "name": "Xrcc2-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Xrcc2",
                    "type": "recommended"
                },
                {
                    "name": "CG6318",
                    "type": "synonym"
                },
                {
                    "name": "Dm CG6318",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6318",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6318",
                    "type": "synonym"
                },
                {
                    "name": "Rad51D",
                    "type": "synonym"
                },
                {
                    "name": "XRCC2",
                    "type": "synonym"
                },
                {
                    "name": "Xrcc2",
                    "type": "synonym"
                },
                {
                    "name": "dmRad51D",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VWT5-1",
            "evidence": [
                {
                    "id": "0111085",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111085"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111085"
}