{
    "disease_id": "DOID:0080260",
    "recommended_name": {
        "id": "DOID:0080260",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080260",
        "name": "autosomal recessive spinocerebellar ataxia 26",
        "description": "An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080260",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080260",
            "name": "SCAR26",
            "description": ""
        },
        {
            "id": "MONDO:0033116",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033116",
            "name": "spinocerebellar ataxia, autosomal recessive 26",
            "description": ""
        },
        {
            "id": "MONDO:0033116",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033116",
            "name": "spinocerebellar ataxia, autosomal recessive 26",
            "description": ""
        },
        {
            "id": "MONDO:0033116",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033116",
            "name": "SCAR26",
            "description": ""
        },
        {
            "id": "MIM:617633",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617633",
            "name": "Spinocerebellar ataxia, autosomal recessive, 26",
            "description": "Spinocerebellar ataxia, autosomal recessive, 26"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080260"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080260",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080260",
            "categories": []
        },
        {
            "id": "MONDO:0033116",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033116",
            "categories": []
        },
        {
            "id": "MIM:617633",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617633",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58HG74-1",
            "uniprot_ac": "A0AC58HG74",
            "uniprot_id": "A0AC58HG74_DANRE",
            "refseq_ac": "NP_001003988",
            "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 XRCC1",
                    "type": "recommended"
                },
                {
                    "name": "DNA repair protein XRCC1",
                    "type": "synonym"
                },
                {
                    "name": "X-ray repair complementing defective repair in Chinese hamster cells 1",
                    "type": "synonym"
                },
                {
                    "name": "X-ray repair cross-complementing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "xrcc1",
                    "type": "recommended"
                },
                {
                    "name": "xrcc1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:91996",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HG74-1",
            "evidence": [
                {
                    "id": "0080260",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080260"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60596-1",
            "uniprot_ac": "Q60596",
            "uniprot_id": "XRCC1_MOUSE",
            "refseq_ac": "NP_033558",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA repair protein XRCC1",
                    "type": "recommended"
                },
                {
                    "name": "DNA repair protein XRCC1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair protein XRCC1",
                    "type": "synonym"
                },
                {
                    "name": "X-ray repair complementing defective repair in Chinese hamster cells 1",
                    "type": "synonym"
                },
                {
                    "name": "X-ray repair cross-complementing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Xrcc1",
                    "type": "recommended"
                },
                {
                    "name": "Xrcc-1",
                    "type": "synonym"
                },
                {
                    "name": "Xrcc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60596-1",
            "evidence": [
                {
                    "id": "0080260",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080260"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18887-1",
            "uniprot_ac": "P18887",
            "uniprot_id": "XRCC1_HUMAN",
            "refseq_ac": "NP_006288",
            "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 XRCC1",
                    "type": "recommended"
                },
                {
                    "name": "DNA repair protein XRCC1",
                    "type": "synonym"
                },
                {
                    "name": "X-ray repair complementing defective repair in Chinese hamster cells 1",
                    "type": "synonym"
                },
                {
                    "name": "X-ray repair cross-complementing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "XRCC1",
                    "type": "recommended"
                },
                {
                    "name": "RCC",
                    "type": "synonym"
                },
                {
                    "name": "SCAR26",
                    "type": "synonym"
                },
                {
                    "name": "XRCC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P18887-1",
            "evidence": [
                {
                    "id": "617633",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617633"
                },
                {
                    "id": "0080260",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080260"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ESZ0-1",
            "uniprot_ac": "Q9ESZ0",
            "uniprot_id": "XRCC1_RAT",
            "refseq_ac": "NP_445887",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA repair protein XRCC1",
                    "type": "recommended"
                },
                {
                    "name": "DNA repair protein XRCC1",
                    "type": "synonym"
                },
                {
                    "name": "X-ray repair complementing defective repair in Chinese hamster cells 1",
                    "type": "synonym"
                },
                {
                    "name": "X-ray repair cross-complementing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "x-ray repair cross-complementing group 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Xrcc1",
                    "type": "recommended"
                },
                {
                    "name": "Xrcc-1",
                    "type": "synonym"
                },
                {
                    "name": "Xrcc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ESZ0-1",
            "evidence": [
                {
                    "id": "0080260",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080260"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y095-1",
            "uniprot_ac": "Q9Y095",
            "uniprot_id": "Q9Y095_DROME",
            "refseq_ac": "NP_572217",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4208-PA",
                    "type": "synonym"
                },
                {
                    "name": "XRCC1-PA",
                    "type": "synonym"
                },
                {
                    "name": "XRCC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "XRCC1",
                    "type": "recommended"
                },
                {
                    "name": "4208",
                    "type": "synonym"
                },
                {
                    "name": "CG4208",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4208",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4208",
                    "type": "synonym"
                },
                {
                    "name": "XRCC1",
                    "type": "synonym"
                },
                {
                    "name": "Xrcc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y095-1",
            "evidence": [
                {
                    "id": "0080260",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080260"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080260"
}