{
    "disease_id": "DOID:0111090",
    "recommended_name": {
        "id": "DOID:0111090",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111090",
        "name": "Fanconi anemia complementation group R",
        "description": "A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15."
    },
    "synonyms": [
        {
            "id": "DOID:0111090",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111090",
            "name": "FANCR",
            "description": ""
        },
        {
            "id": "MONDO:0014986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014986",
            "name": "Fanconi anemia complementation group R",
            "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene."
        },
        {
            "id": "MONDO:0014986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014986",
            "name": "FANCR",
            "description": ""
        },
        {
            "id": "MONDO:0014986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014986",
            "name": "Fanconi Anemia, complementation group R",
            "description": ""
        },
        {
            "id": "MONDO:0014986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014986",
            "name": "Fanconi Anemia, complementation group type R",
            "description": ""
        },
        {
            "id": "MONDO:0014986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014986",
            "name": "Fanconi anaemia caused by mutation in RAD51",
            "description": ""
        },
        {
            "id": "MONDO:0014986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014986",
            "name": "Fanconi anaemia complementation group type R",
            "description": ""
        },
        {
            "id": "MONDO:0014986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014986",
            "name": "Fanconi anemia caused by mutation in RAD51",
            "description": ""
        },
        {
            "id": "MONDO:0014986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014986",
            "name": "Fanconi anemia complementation group type R",
            "description": ""
        },
        {
            "id": "MONDO:0014986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014986",
            "name": "RAD51 Fanconi anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0014986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014986",
            "name": "RAD51 Fanconi anemia",
            "description": ""
        },
        {
            "id": "MONDO:0014986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014986",
            "name": "Fanconi anemia, complementation GROUP R",
            "description": ""
        },
        {
            "id": "MIM:617244",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617244",
            "name": "Fanconi anemia, complementation group R",
            "description": "Fanconi anemia, complementation group R"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111090"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111090",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111090",
            "categories": []
        },
        {
            "id": "MONDO:0014986",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014986",
            "categories": []
        },
        {
            "id": "MIM:617244",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617244",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q27297-1",
            "uniprot_ac": "Q27297",
            "uniprot_id": "RAD51_DROME",
            "refseq_ac": "NP_524583",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA repair protein Rad51 homolog",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG7948-PA; spn-A-PA; Rad51-like; spindle A; Spindle-A",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Protein spindle-A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RecA protein homolog",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "spindle A, isoform A",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spn-A",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG7948; D37788; Dm Rad51; Dmel\\CG7948; DMR; DMR/DroRAD51; DMR1; dmrad51; dmRAD51; Dmrad51; DmRad51; DmRAD51; dRad51; RA51; RA51_DROME; rad51; Rad51; RAD51; Rad51dm; Spn-A; spnA; SpnA",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG7948",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DMR",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Rad51",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "spn-A",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111090",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111090"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08297-1",
            "uniprot_ac": "Q08297",
            "uniprot_id": "RAD51_MOUSE",
            "refseq_ac": "NP_035364",
            "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 RAD51 homolog 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "DNA repair protein RAD51 homolog 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "RAD51 homolog A",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "RAD51 homolog A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rad51",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Rad51a; Reca",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Rad51a",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Rad51",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Reca",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111090",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111090"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25454-1",
            "uniprot_ac": "P25454",
            "uniprot_id": "RAD51_YEAST",
            "refseq_ac": "NP_011021",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA repair protein RAD51",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "recombinase RAD51",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAD51",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "MUT5",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "RAD51",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111090",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111090"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06609-1",
            "uniprot_ac": "Q06609",
            "uniprot_id": "RAD51_HUMAN",
            "refseq_ac": "NP_001157741",
            "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 RAD51 homolog 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "BRCA1/BRCA2-containing complex, subunit 5; recombination protein A; RecA, E. coli, homolog of; RecA-like protein; DNA repair protein RAD51 homolog 1; RAD51 homolog A",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair protein RAD51 homolog 1 isoform 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "HsRAD51",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RAD51 homolog A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "hRAD51",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAD51",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "BRCC5; FANCR; HRAD51; HsRad51; HsT16930; MRMV2; RAD51A; RECA",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "RAD51A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RAD51",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "RECA",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111090",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111090"
                },
                {
                    "id": "617244",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617244"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5TYR1-1",
            "uniprot_ac": "Q5TYR1",
            "uniprot_id": "Q5TYR1_DANRE",
            "refseq_ac": "NP_998371",
            "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 RAD51 homolog",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "DNA repair protein RAD51 homolog 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "RAD51 homolog (RecA homolog, E. coli)",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rad51",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "rad51",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb38e12; zgc:77754",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb38e12",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77754",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111090",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111090"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A6HPE0-1",
            "uniprot_ac": "A6HPE0",
            "uniprot_id": "A6HPE0_RAT",
            "refseq_ac": "NP_001102674",
            "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 RAD51 homolog",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "DNA repair protein RAD51 homolog 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "RAD51 homolog",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rad51",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "RGD1563603",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Rad51",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111090",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111090"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111090"
}