{
    "disease_id": "DOID:0080908",
    "recommended_name": {
        "id": "DOID:0080908",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080908",
        "name": "Cockayne syndrome B",
        "description": "A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11."
    },
    "synonyms": [
        {
            "id": "DOID:0080908",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080908",
            "name": "Cockayne syndrome 2",
            "description": ""
        },
        {
            "id": "DOID:0080908",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080908",
            "name": "Cockayne syndrome type II",
            "description": ""
        },
        {
            "id": "MONDO:0019570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019570",
            "name": "Cockayne syndrome type 2",
            "description": "Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6."
        },
        {
            "id": "MONDO:0019570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019570",
            "name": "Cockayne syndrome B",
            "description": ""
        },
        {
            "id": "MONDO:0019570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019570",
            "name": "Cockayne syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0019570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019570",
            "name": "Cockayne syndrome type B",
            "description": ""
        },
        {
            "id": "MONDO:0019570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019570",
            "name": "Cockayne syndrome type II",
            "description": ""
        },
        {
            "id": "MONDO:0019570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019570",
            "name": "Cockayne syndrome, type B",
            "description": ""
        },
        {
            "id": "MONDO:0019570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019570",
            "name": "CSB",
            "description": ""
        },
        {
            "id": "MIM:133540",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/133540",
            "name": "Cockayne syndrome B",
            "description": "Cockayne syndrome B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080908"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080908",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080908",
            "categories": []
        },
        {
            "id": "MONDO:0019570",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019570",
            "categories": []
        },
        {
            "id": "MIM:133540",
            "database": "MIM",
            "url": "https://www.omim.org/entry/133540",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6Z974-1",
            "uniprot_ac": "A0A8M6Z974",
            "uniprot_id": "A0A8M6Z974_DANRE",
            "refseq_ac": "XP_017214320",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA excision repair protein ERCC-6",
                    "type": "recommended"
                },
                {
                    "name": "ATP-dependent helicase ERCC6",
                    "type": "synonym"
                },
                {
                    "name": "Cockayne syndrome protein CSB",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ercc6",
                    "type": "recommended"
                },
                {
                    "name": "ercc6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6Z974-1",
            "evidence": [
                {
                    "id": "0080908",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080908"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F8VPZ5-1",
            "uniprot_ac": "F8VPZ5",
            "uniprot_id": "ERCC6_MOUSE",
            "refseq_ac": "NP_001074690",
            "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-6",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase ERCC6",
                    "type": "synonym"
                },
                {
                    "name": "CS group B correcting",
                    "type": "synonym"
                },
                {
                    "name": "Cockayne syndrome protein CSB",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-6",
                    "type": "synonym"
                },
                {
                    "name": "cockayne syndrome protein CSB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ercc6",
                    "type": "recommended"
                },
                {
                    "name": "4732403I04",
                    "type": "synonym"
                },
                {
                    "name": "C130058G22Rik",
                    "type": "synonym"
                },
                {
                    "name": "CSB",
                    "type": "synonym"
                },
                {
                    "name": "Csb",
                    "type": "synonym"
                },
                {
                    "name": "Ercc6",
                    "type": "synonym"
                }
            ],
            "record_id": "F8VPZ5-1",
            "evidence": [
                {
                    "id": "0080908",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080908"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03468-1",
            "uniprot_ac": "Q03468",
            "uniprot_id": "ERCC6_HUMAN",
            "refseq_ac": "NP_000115",
            "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-6",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase ERCC6",
                    "type": "synonym"
                },
                {
                    "name": "Chimeric CSB-PGBD3 protein",
                    "type": "synonym"
                },
                {
                    "name": "Chimeric ERCC6-PGBD3 protein",
                    "type": "synonym"
                },
                {
                    "name": "Cockayne syndrome group B protein",
                    "type": "synonym"
                },
                {
                    "name": "Cockayne syndrome protein CSB",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-6 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-6",
                    "type": "synonym"
                },
                {
                    "name": "ERCC6-PGBD3 fusion protein",
                    "type": "synonym"
                },
                {
                    "name": "cockayne syndrome protein CSB",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementation group 6",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementing rodent repair deficiency, complementation group 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERCC6",
                    "type": "recommended"
                },
                {
                    "name": "ARMD5",
                    "type": "synonym"
                },
                {
                    "name": "CKN2",
                    "type": "synonym"
                },
                {
                    "name": "COFS1",
                    "type": "synonym"
                },
                {
                    "name": "COFS",
                    "type": "synonym"
                },
                {
                    "name": "CSB-PGBD3",
                    "type": "synonym"
                },
                {
                    "name": "CSB",
                    "type": "synonym"
                },
                {
                    "name": "ERCC6",
                    "type": "synonym"
                },
                {
                    "name": "POF11",
                    "type": "synonym"
                },
                {
                    "name": "RAD26",
                    "type": "synonym"
                },
                {
                    "name": "UVSS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03468-1",
            "evidence": [
                {
                    "id": "133540",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/133540"
                },
                {
                    "id": "0080908",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080908"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40352-1",
            "uniprot_ac": "P40352",
            "uniprot_id": "RAD26_YEAST",
            "refseq_ac": "NP_012569",
            "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 and recombination protein RAD26",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "DNA-dependent ATPase RAD26",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAD26",
                    "type": "recommended"
                },
                {
                    "name": "GTA1085",
                    "type": "synonym"
                },
                {
                    "name": "J1606",
                    "type": "synonym"
                },
                {
                    "name": "RAD26",
                    "type": "synonym"
                }
            ],
            "record_id": "P40352-1",
            "evidence": [
                {
                    "id": "0080908",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080908"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JTU1-1",
            "uniprot_ac": "A0A0G2JTU1",
            "uniprot_id": "A0A0G2JTU1_RAT",
            "refseq_ac": "NP_001423629",
            "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-6",
                    "type": "recommended"
                },
                {
                    "name": "ATP-dependent helicase ERCC6",
                    "type": "synonym"
                },
                {
                    "name": "Cockayne syndrome protein CSB",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-6",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementation group 6",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementing rodent repair deficiency, complementation group 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ercc6",
                    "type": "recommended"
                },
                {
                    "name": "Ercc6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JTU1-1",
            "evidence": [
                {
                    "id": "0080908",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080908"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62969-1",
            "uniprot_ac": "Q62969",
            "uniprot_id": "PTGIS_RAT",
            "refseq_ac": "NP_113745",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prostacyclin synthase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.152",
                    "type": "synonym"
                },
                {
                    "name": "5.3.99.4",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "Prostaglandin I2 synthase",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "prostacyclin synthase",
                    "type": "synonym"
                },
                {
                    "name": "prostaglandin I2 (prostacyclin) synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AABR07054614.1",
                    "type": "recommended"
                },
                {
                    "name": "Ptgis",
                    "type": "recommended"
                },
                {
                    "name": "AABR07054614.1",
                    "type": "synonym"
                },
                {
                    "name": "Cyp8",
                    "type": "synonym"
                },
                {
                    "name": "PGIS",
                    "type": "synonym"
                },
                {
                    "name": "Ptgis",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62969-1",
            "evidence": [
                {
                    "id": "0080908",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080908"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080908"
}