{
    "disease_id": "DOID:0111096",
    "recommended_name": {
        "id": "DOID:0111096",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111096",
        "name": "Fanconi anemia complementation group O",
        "description": "A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24."
    },
    "synonyms": [
        {
            "id": "DOID:0111096",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111096",
            "name": "FANCO",
            "description": ""
        },
        {
            "id": "MONDO:0013248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013248",
            "name": "Fanconi anemia complementation group O",
            "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene."
        },
        {
            "id": "MONDO:0013248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013248",
            "name": "FANCO",
            "description": ""
        },
        {
            "id": "MONDO:0013248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013248",
            "name": "Fanconi Anemia, complementation group type O",
            "description": ""
        },
        {
            "id": "MONDO:0013248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013248",
            "name": "Fanconi anaemia caused by mutation in RAD51C",
            "description": ""
        },
        {
            "id": "MONDO:0013248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013248",
            "name": "Fanconi anaemia caused by mutation in Rad51C",
            "description": ""
        },
        {
            "id": "MONDO:0013248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013248",
            "name": "Fanconi anaemia complementation group type O",
            "description": ""
        },
        {
            "id": "MONDO:0013248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013248",
            "name": "Fanconi anemia caused by mutation in RAD51C",
            "description": ""
        },
        {
            "id": "MONDO:0013248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013248",
            "name": "Fanconi anemia caused by mutation in Rad51C",
            "description": ""
        },
        {
            "id": "MONDO:0013248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013248",
            "name": "Fanconi anemia complementation group type O",
            "description": ""
        },
        {
            "id": "MONDO:0013248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013248",
            "name": "RAD51C Fanconi anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0013248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013248",
            "name": "RAD51C Fanconi anemia",
            "description": ""
        },
        {
            "id": "MONDO:0013248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013248",
            "name": "Rad51C Fanconi anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0013248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013248",
            "name": "Rad51C Fanconi anemia",
            "description": ""
        },
        {
            "id": "MONDO:0013248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013248",
            "name": "Fanconi anemia, complementation group O",
            "description": ""
        },
        {
            "id": "MIM:613390",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613390",
            "name": "Fanconi anemia complementation group O",
            "description": "Fanconi anemia complementation group O"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111096"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111096",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111096",
            "categories": []
        },
        {
            "id": "MONDO:0013248",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013248",
            "categories": []
        },
        {
            "id": "MIM:613390",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613390",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QC24-1",
            "uniprot_ac": "A0A8M9QC24",
            "uniprot_id": "A0A8M9QC24_DANRE",
            "refseq_ac": "XP_021334839",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "DNA repair protein RAD51 homolog 3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "RAD51 homolog C",
                    "type": "synonym"
                },
                {
                    "name": "RAD51-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rad51c",
                    "type": "recommended"
                },
                {
                    "name": "fanco",
                    "type": "synonym"
                },
                {
                    "name": "rad51c",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101596",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QC24-1",
            "evidence": [
                {
                    "id": "0111096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111096"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q924H5-1",
            "uniprot_ac": "Q924H5",
            "uniprot_id": "RA51C_MOUSE",
            "refseq_ac": "NP_001278369",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "DNA repair protein RAD51 homolog 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair protein RAD51 homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "R51H3",
                    "type": "synonym"
                },
                {
                    "name": "RAD51 homolog C",
                    "type": "synonym"
                },
                {
                    "name": "RAD51-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rad51c",
                    "type": "recommended"
                },
                {
                    "name": "R51H3",
                    "type": "synonym"
                },
                {
                    "name": "Rad51c",
                    "type": "synonym"
                },
                {
                    "name": "Rad51l2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q924H5-1",
            "evidence": [
                {
                    "id": "0111096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111096"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43502-1",
            "uniprot_ac": "O43502",
            "uniprot_id": "RA51C_HUMAN",
            "refseq_ac": "NP_002867",
            "glycoprotein": "yes",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "DNA repair protein RAD51 homolog 3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair protein RAD51 homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "R51H3",
                    "type": "synonym"
                },
                {
                    "name": "RAD51 homolog C",
                    "type": "synonym"
                },
                {
                    "name": "RAD51-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "yeast RAD51 homolog 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAD51C",
                    "type": "recommended"
                },
                {
                    "name": "BROVCA3",
                    "type": "synonym"
                },
                {
                    "name": "FANCO",
                    "type": "synonym"
                },
                {
                    "name": "R51H3",
                    "type": "synonym"
                },
                {
                    "name": "RAD51C",
                    "type": "synonym"
                },
                {
                    "name": "RAD51L2",
                    "type": "synonym"
                }
            ],
            "record_id": "O43502-1",
            "evidence": [
                {
                    "id": "613390",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613390"
                },
                {
                    "id": "0111096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111096"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V6U0-1",
            "uniprot_ac": "G3V6U0",
            "uniprot_id": "G3V6U0_RAT",
            "refseq_ac": "",
            "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 3",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Rad51c",
                    "type": "recommended"
                }
            ],
            "record_id": "G3V6U0-1",
            "evidence": [
                {
                    "id": "0111096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111096"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111096"
}