{
    "disease_id": "DOID:0080907",
    "recommended_name": {
        "id": "DOID:0080907",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080907",
        "name": "Cockayne syndrome A",
        "description": "A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11."
    },
    "synonyms": [
        {
            "id": "DOID:0080907",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080907",
            "name": "Cockayne syndrome type 1",
            "description": ""
        },
        {
            "id": "DOID:0080907",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080907",
            "name": "Cockayne syndrome type I",
            "description": ""
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "Cockayne syndrome type 1",
            "description": "Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8."
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "Cockayne syndrome A",
            "description": ""
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "Cockayne syndrome caused by mutation in ERCC8",
            "description": ""
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "Cockayne syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "Cockayne syndrome type I",
            "description": ""
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "Cockayne syndrome type a",
            "description": ""
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "Cockayne syndrome, type A",
            "description": ""
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "ERCC8 Cockayne syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "CSA",
            "description": ""
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "Cockayne syndrome classic form",
            "description": ""
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "Cockayne syndrome classical",
            "description": ""
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "Cockayne syndrome type A",
            "description": ""
        },
        {
            "id": "MIM:216400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/216400",
            "name": "Cockayne syndrome A",
            "description": "Cockayne syndrome A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080907"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080907",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080907",
            "categories": []
        },
        {
            "id": "MONDO:0019569",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "categories": []
        },
        {
            "id": "MIM:216400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/216400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8CFD5-1",
            "uniprot_ac": "Q8CFD5",
            "uniprot_id": "ERCC8_MOUSE",
            "refseq_ac": "NP_082318",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA excision repair protein ERCC-8",
                    "type": "recommended"
                },
                {
                    "name": "Cockayne syndrome 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Cockayne syndrome WD repeat protein CSA homolog",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-8 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-8",
                    "type": "synonym"
                },
                {
                    "name": "cockayne syndrome WD repeat protein CSA homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ercc8",
                    "type": "recommended"
                },
                {
                    "name": "2410022P04Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810431L23Rik",
                    "type": "synonym"
                },
                {
                    "name": "4631412O06Rik",
                    "type": "synonym"
                },
                {
                    "name": "B130065P18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ckn1",
                    "type": "synonym"
                },
                {
                    "name": "Csa",
                    "type": "synonym"
                },
                {
                    "name": "Ercc8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CFD5-1",
            "evidence": [
                {
                    "id": "0080907",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080907"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13216-1",
            "uniprot_ac": "Q13216",
            "uniprot_id": "ERCC8_HUMAN",
            "refseq_ac": "NP_000073",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA excision repair protein ERCC-8",
                    "type": "recommended"
                },
                {
                    "name": "Cockayne syndrome WD repeat protein CSA",
                    "type": "synonym"
                },
                {
                    "name": "Cockayne syndrome WD-repeat protein CSA",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-8 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-8",
                    "type": "synonym"
                },
                {
                    "name": "cockayne syndrome WD repeat protein CSA",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementation group 8",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementing rodent repair deficiency, complementation group 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERCC8",
                    "type": "recommended"
                },
                {
                    "name": "CKN1",
                    "type": "synonym"
                },
                {
                    "name": "CSA",
                    "type": "synonym"
                },
                {
                    "name": "ERCC8",
                    "type": "synonym"
                },
                {
                    "name": "UVSS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13216-1",
            "evidence": [
                {
                    "id": "216400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/216400"
                },
                {
                    "id": "0080907",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080907"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12021-1",
            "uniprot_ac": "Q12021",
            "uniprot_id": "RAD28_YEAST",
            "refseq_ac": "NP_010313",
            "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": "Radiation-sensitive protein 28",
                    "type": "recommended"
                },
                {
                    "name": "Rad28p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAD28",
                    "type": "recommended"
                },
                {
                    "name": "RAD28",
                    "type": "synonym"
                },
                {
                    "name": "YD9813.08c",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12021-1",
            "evidence": [
                {
                    "id": "0080907",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080907"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V7B8-1",
            "uniprot_ac": "G3V7B8",
            "uniprot_id": "G3V7B8_RAT",
            "refseq_ac": "NP_001101120",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA excision repair protein ERCC-8",
                    "type": "recommended"
                },
                {
                    "name": "Cockayne syndrome 1 (classical)",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-8",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementation group 8",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementing rodent repair deficiency, complementation group 8",
                    "type": "synonym"
                },
                {
                    "name": "excision repaiross-complementing rodent repair deficiency, complementation group 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ercc8",
                    "type": "recommended"
                },
                {
                    "name": "Ckn1",
                    "type": "synonym"
                },
                {
                    "name": "Ercc8",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V7B8-1",
            "evidence": [
                {
                    "id": "0080907",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080907"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63921-1",
            "uniprot_ac": "Q63921",
            "uniprot_id": "PGH1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prostaglandin G/H synthase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.99.1",
                    "type": "synonym"
                },
                {
                    "name": "COX-1",
                    "type": "synonym"
                },
                {
                    "name": "Cyclooxygenase-1",
                    "type": "synonym"
                },
                {
                    "name": "PGH synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "PGHS-1",
                    "type": "synonym"
                },
                {
                    "name": "PHS 1",
                    "type": "synonym"
                },
                {
                    "name": "Prostaglandin H2 synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "Prostaglandin-endoperoxide synthase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptgs1",
                    "type": "recommended"
                },
                {
                    "name": "Cox-1",
                    "type": "synonym"
                },
                {
                    "name": "Cox1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63921-1",
            "evidence": [
                {
                    "id": "0080907",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080907"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080907"
}