{
    "disease_id": "DOID:0080911",
    "recommended_name": {
        "id": "DOID:0080911",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080911",
        "name": "cerebrooculofacioskeletal syndrome 1",
        "description": "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0008955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008955",
            "name": "cerebrooculofacioskeletal syndrome 1",
            "description": "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene."
        },
        {
            "id": "MONDO:0008955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008955",
            "name": "COFS syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008955",
            "name": "COFS syndrome caused by mutation in ERCC6",
            "description": ""
        },
        {
            "id": "MONDO:0008955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008955",
            "name": "COFS1",
            "description": ""
        },
        {
            "id": "MONDO:0008955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008955",
            "name": "ERCC6 COFS syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008955",
            "name": "cerebrooculofacioskeletal syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0008955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008955",
            "name": "cerebrooculofacioskeletal syndrome type 1",
            "description": ""
        },
        {
            "id": "MIM:214150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/214150",
            "name": "Cerebro-oculo-facio-skeletal syndrome 1",
            "description": "Cerebro-oculo-facio-skeletal syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080911"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080911",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080911",
            "categories": []
        },
        {
            "id": "MONDO:0008955",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008955",
            "categories": []
        },
        {
            "id": "MIM:214150",
            "database": "MIM",
            "url": "https://www.omim.org/entry/214150",
            "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": "0080911",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080911"
                }
            ]
        },
        {
            "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": "0080911",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080911"
                }
            ]
        },
        {
            "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": "214150",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/214150"
                },
                {
                    "id": "0080911",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080911"
                }
            ]
        },
        {
            "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": "0080911",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080911"
                }
            ]
        },
        {
            "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": "0080911",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080911"
                }
            ]
        },
        {
            "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": "0080911",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080911"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080911"
}