{
    "disease_id": "DOID:0080914",
    "recommended_name": {
        "id": "DOID:0080914",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080914",
        "name": "cerebrooculofacioskeletal syndrome 4",
        "description": "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0012554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012554",
            "name": "cerebrooculofacioskeletal syndrome 4",
            "description": "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene."
        },
        {
            "id": "MONDO:0012554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012554",
            "name": "COFS syndrome caused by mutation in ERCC1",
            "description": ""
        },
        {
            "id": "MONDO:0012554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012554",
            "name": "COFS4",
            "description": ""
        },
        {
            "id": "MONDO:0012554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012554",
            "name": "ERCC1 COFS syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012554",
            "name": "cerebrooculofacioskeletal syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0012554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012554",
            "name": "cerebrooculofacioskeletal syndrome type 4",
            "description": ""
        },
        {
            "id": "MIM:610758",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610758",
            "name": "Cerebro-oculo-facio-skeletal syndrome 4",
            "description": "Cerebro-oculo-facio-skeletal syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080914"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080914",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080914",
            "categories": []
        },
        {
            "id": "MONDO:0012554",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012554",
            "categories": []
        },
        {
            "id": "MIM:610758",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610758",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P07903-1",
            "uniprot_ac": "P07903",
            "uniprot_id": "ERCC1_MOUSE",
            "refseq_ac": "NP_001120796",
            "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-1",
                    "type": "recommended"
                },
                {
                    "name": "DNA excision repair protein ERCC-1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ercc1",
                    "type": "recommended"
                },
                {
                    "name": "Ercc-1",
                    "type": "synonym"
                },
                {
                    "name": "Ercc1",
                    "type": "synonym"
                }
            ],
            "record_id": "P07903-1",
            "evidence": [
                {
                    "id": "0080914",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080914"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07992-1",
            "uniprot_ac": "P07992",
            "uniprot_id": "ERCC1_HUMAN",
            "refseq_ac": "NP_001159521",
            "glycoprotein": "no",
            "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-1",
                    "type": "recommended"
                },
                {
                    "name": "DNA excision repair protein ERCC-1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-1",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementation group 1",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERCC1",
                    "type": "recommended"
                },
                {
                    "name": "COFS4",
                    "type": "synonym"
                },
                {
                    "name": "ERCC1",
                    "type": "synonym"
                },
                {
                    "name": "RAD10",
                    "type": "synonym"
                },
                {
                    "name": "UV20",
                    "type": "synonym"
                }
            ],
            "record_id": "P07992-1",
            "evidence": [
                {
                    "id": "610758",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610758"
                },
                {
                    "id": "0080914",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080914"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06838-1",
            "uniprot_ac": "P06838",
            "uniprot_id": "RAD10_YEAST",
            "refseq_ac": "NP_013614",
            "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 protein RAD10",
                    "type": "recommended"
                },
                {
                    "name": "DNA repair protein RAD10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAD10",
                    "type": "recommended"
                },
                {
                    "name": "RAD10",
                    "type": "synonym"
                }
            ],
            "record_id": "P06838-1",
            "evidence": [
                {
                    "id": "0080914",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080914"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GI31-1",
            "uniprot_ac": "A0A8I6GI31",
            "uniprot_id": "A0A8I6GI31_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": "DNA excision repair protein ERCC-1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Ercc1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6GI31-1",
            "evidence": [
                {
                    "id": "0080914",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080914"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22057-1",
            "uniprot_ac": "P22057",
            "uniprot_id": "PTGDS_RAT",
            "refseq_ac": "NP_037147",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prostaglandin-H2 D-isomerase",
                    "type": "recommended"
                },
                {
                    "name": "5.3.99.2",
                    "type": "synonym"
                },
                {
                    "name": "Glutathione-independent PGD synthase",
                    "type": "synonym"
                },
                {
                    "name": "Lipocalin-type prostaglandin-D synthase",
                    "type": "synonym"
                },
                {
                    "name": "PGD2 synthase",
                    "type": "synonym"
                },
                {
                    "name": "PGDS2",
                    "type": "synonym"
                },
                {
                    "name": "PGDS",
                    "type": "synonym"
                },
                {
                    "name": "Prostaglandin D synthase",
                    "type": "synonym"
                },
                {
                    "name": "Prostaglandin-D2 synthase",
                    "type": "synonym"
                },
                {
                    "name": "glutathione-independent PGD synthase",
                    "type": "synonym"
                },
                {
                    "name": "glutathione-independent PGD synthetase",
                    "type": "synonym"
                },
                {
                    "name": "lipocalin-type prostaglandin-D synthase",
                    "type": "synonym"
                },
                {
                    "name": "prostaglandin D2 synthase (brain)",
                    "type": "synonym"
                },
                {
                    "name": "prostaglandin-H2 D-isomerase precursor",
                    "type": "synonym"
                },
                {
                    "name": "prostaglandin-H2 D-isomerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptgds",
                    "type": "recommended"
                },
                {
                    "name": "PH2DISO",
                    "type": "synonym"
                },
                {
                    "name": "Ptgds",
                    "type": "synonym"
                }
            ],
            "record_id": "P22057-1",
            "evidence": [
                {
                    "id": "0080914",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080914"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KMG7-1",
            "uniprot_ac": "Q7KMG7",
            "uniprot_id": "Q7KMG7_DROME",
            "refseq_ac": "NP_477468",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA excision repair protein ERCC-1",
                    "type": "recommended"
                },
                {
                    "name": "CG10215-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ercc1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ercc1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ercc1",
                    "type": "recommended"
                },
                {
                    "name": "CG10215",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10215",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10215",
                    "type": "synonym"
                },
                {
                    "name": "ERCC1",
                    "type": "synonym"
                },
                {
                    "name": "Ercc1",
                    "type": "synonym"
                },
                {
                    "name": "ercc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KMG7-1",
            "evidence": [
                {
                    "id": "0080914",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080914"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080914"
}