{
    "disease_id": "DOID:0060240",
    "recommended_name": {
        "id": "DOID:0060240",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060240",
        "name": "UV-sensitive syndrome",
        "description": "A skin disease characterized by photosensitivity and liver spots (solar lentigines)."
    },
    "synonyms": [
        {
            "id": "MONDO:0010909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010909",
            "name": "UV-sensitive syndrome 1",
            "description": "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene."
        },
        {
            "id": "MONDO:0010909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010909",
            "name": "ERCC6 UV-sensitive syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010909",
            "name": "UV-sensitive syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010909",
            "name": "UV-sensitive syndrome caused by mutation in ERCC6",
            "description": ""
        },
        {
            "id": "MONDO:0010909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010909",
            "name": "UV-sensitive syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010909",
            "name": "UVSS1",
            "description": ""
        },
        {
            "id": "MONDO:0013829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013829",
            "name": "UV-sensitive syndrome 2",
            "description": "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene."
        },
        {
            "id": "MONDO:0013829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013829",
            "name": "ERCC8 UV-sensitive syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013829",
            "name": "UV-sensitive syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013829",
            "name": "UV-sensitive syndrome caused by mutation in ERCC8",
            "description": ""
        },
        {
            "id": "MONDO:0013829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013829",
            "name": "UV-sensitive syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013829",
            "name": "UVSS2",
            "description": ""
        },
        {
            "id": "MONDO:0013834",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013834",
            "name": "UV-sensitive syndrome 3",
            "description": "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene."
        },
        {
            "id": "MONDO:0013834",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013834",
            "name": "UV-sensitive syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0013834",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013834",
            "name": "UV-sensitive syndrome caused by mutation in UVSSA",
            "description": ""
        },
        {
            "id": "MONDO:0013834",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013834",
            "name": "UV-sensitive syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013834",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013834",
            "name": "UVSSA UV-sensitive syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013834",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013834",
            "name": "UVSS3",
            "description": ""
        },
        {
            "id": "MIM:600630",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600630",
            "name": "UV-sensitive syndrome 1",
            "description": "UV-sensitive syndrome 1"
        },
        {
            "id": "MIM:614621",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614621",
            "name": "UV-sensitive syndrome 2",
            "description": "UV-sensitive syndrome 2"
        },
        {
            "id": "MIM:614640",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614640",
            "name": "UV-sensitive syndrome 3",
            "description": "UV-sensitive syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060240"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060240",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060240",
            "categories": []
        },
        {
            "id": "MONDO:0010909",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010909",
            "categories": []
        },
        {
            "id": "MONDO:0013829",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013829",
            "categories": []
        },
        {
            "id": "MONDO:0013834",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013834",
            "categories": []
        },
        {
            "id": "MIM:600630",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600630",
            "categories": []
        },
        {
            "id": "MIM:614621",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614621",
            "categories": []
        },
        {
            "id": "MIM:614640",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614640",
            "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",
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                    "id": "0060240",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060240"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7EXT2-1",
            "uniprot_ac": "E7EXT2",
            "uniprot_id": "UVSSA_DANRE",
            "refseq_ac": "NP_001333081",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "UV-stimulated scaffold protein A",
                    "type": "recommended"
                },
                {
                    "name": "UV-stimulated scaffold protein A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "uvssa",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-18h19.2",
                    "type": "synonym"
                },
                {
                    "name": "uvssa",
                    "type": "synonym"
                }
            ],
            "record_id": "E7EXT2-1",
            "evidence": [
                {
                    "id": "0060240",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060240"
                }
            ]
        },
        {
            "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",
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                {
                    "id": "0060240",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060240"
                }
            ]
        },
        {
            "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"
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            ],
            "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",
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                {
                    "id": "0060240",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060240"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D479-1",
            "uniprot_ac": "Q9D479",
            "uniprot_id": "UVSSA_MOUSE",
            "refseq_ac": "NP_001074570",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "UV-stimulated scaffold protein A",
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                {
                    "name": "UV-stimulated scaffold protein A",
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            ],
            "gene_names": [
                {
                    "name": "Uvssa",
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                {
                    "name": "4933407H18Rik",
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                },
                {
                    "name": "D330017J19Rik",
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                },
                {
                    "name": "Kiaa1530",
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                },
                {
                    "name": "Uvssa",
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                {
                    "name": "mKIAA1530",
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            ],
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                {
                    "id": "0060240",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060240"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2YD98-1",
            "uniprot_ac": "Q2YD98",
            "uniprot_id": "UVSSA_HUMAN",
            "refseq_ac": "NP_001304863",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "UV-stimulated scaffold protein A",
                    "type": "recommended"
                },
                {
                    "name": "UV-stimulated scaffold protein A",
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                }
            ],
            "gene_names": [
                {
                    "name": "UVSSA",
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                    "name": "KIAA1530",
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                },
                {
                    "name": "UVSS3",
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                {
                    "name": "UVSSA",
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            ],
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                    "id": "614640",
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                    "url": "https://www.omim.org/entry/614640"
                },
                {
                    "id": "0060240",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060240"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03468-1",
            "uniprot_ac": "Q03468",
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            "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",
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                {
                    "name": "ATP-dependent helicase ERCC6",
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                    "name": "Chimeric CSB-PGBD3 protein",
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                },
                {
                    "name": "Chimeric ERCC6-PGBD3 protein",
                    "type": "synonym"
                },
                {
                    "name": "Cockayne syndrome group B protein",
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                {
                    "name": "Cockayne syndrome protein CSB",
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                {
                    "name": "DNA excision repair protein ERCC-6 isoform 2",
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                },
                {
                    "name": "DNA excision repair protein ERCC-6",
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                {
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                {
                    "name": "excision repair cross-complementation group 6",
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                },
                {
                    "name": "excision repair cross-complementing rodent repair deficiency, complementation group 6",
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                }
            ],
            "gene_names": [
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                    "name": "ERCC6",
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                    "name": "ARMD5",
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                {
                    "name": "CKN2",
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                },
                {
                    "name": "COFS1",
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                    "name": "ERCC6",
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                {
                    "id": "0060240",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060240"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13216-1",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                }
            ],
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                    "name": "DNA excision repair protein ERCC-8",
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                {
                    "name": "Cockayne syndrome WD-repeat protein CSA",
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                {
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                },
                {
                    "name": "cockayne syndrome WD repeat protein CSA",
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                {
                    "name": "excision repair cross-complementation group 8",
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                {
                    "name": "excision repair cross-complementing rodent repair deficiency, complementation group 8",
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            ],
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                    "name": "ERCC8",
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                {
                    "name": "CSA",
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                    "name": "ERCC8",
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                },
                {
                    "name": "UVSS2",
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                }
            ],
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                {
                    "id": "614621",
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                    "url": "https://www.omim.org/entry/614621"
                },
                {
                    "id": "0060240",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060240"
                }
            ]
        },
        {
            "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": [
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                    "name": "RAD28",
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                },
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                    "name": "RAD28",
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                },
                {
                    "name": "YD9813.08c",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12021-1",
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                {
                    "id": "0060240",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060240"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40352-1",
            "uniprot_ac": "P40352",
            "uniprot_id": "RAD26_YEAST",
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            "glycoprotein": "no",
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                {
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}