{
    "disease_id": "DOID:0110844",
    "recommended_name": {
        "id": "DOID:0110844",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110844",
        "name": "xeroderma pigmentosum group C",
        "description": "A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has_material_basis_in mutation in the XPC gene on chromosome 3p25."
    },
    "synonyms": [
        {
            "id": "DOID:0110844",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110844",
            "name": "XP group C",
            "description": ""
        },
        {
            "id": "DOID:0110844",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110844",
            "name": "XP3",
            "description": ""
        },
        {
            "id": "DOID:0110844",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110844",
            "name": "XPC",
            "description": ""
        },
        {
            "id": "DOID:0110844",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110844",
            "name": "XPCC",
            "description": ""
        },
        {
            "id": "DOID:0110844",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110844",
            "name": "xeroderma pigmentosum III",
            "description": ""
        },
        {
            "id": "MONDO:0010211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010211",
            "name": "xeroderma pigmentosum group C",
            "description": "An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair."
        },
        {
            "id": "MONDO:0010211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010211",
            "name": "XP-C",
            "description": ""
        },
        {
            "id": "MONDO:0010211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010211",
            "name": "XP3",
            "description": ""
        },
        {
            "id": "MONDO:0010211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010211",
            "name": "XPC",
            "description": ""
        },
        {
            "id": "MONDO:0010211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010211",
            "name": "XPCC",
            "description": ""
        },
        {
            "id": "MONDO:0010211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010211",
            "name": "xeroderma pigmentosum group C",
            "description": ""
        },
        {
            "id": "MONDO:0010211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010211",
            "name": "xeroderma pigmentosum group type C",
            "description": ""
        },
        {
            "id": "MONDO:0010211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010211",
            "name": "xeroderma pigmentosum, complementation group type C",
            "description": ""
        },
        {
            "id": "MONDO:0010211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010211",
            "name": "xeroderma pigmentosum, group C",
            "description": ""
        },
        {
            "id": "MONDO:0010211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010211",
            "name": "xeroderma pigmentosum, complementation group C",
            "description": ""
        },
        {
            "id": "MONDO:0010211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010211",
            "name": "xeroderma pigmentosum, type 3",
            "description": ""
        },
        {
            "id": "MIM:278720",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/278720",
            "name": "Xeroderma pigmentosum complementation group C",
            "description": "Xeroderma pigmentosum complementation group C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110844"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110844",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110844",
            "categories": []
        },
        {
            "id": "MONDO:0010211",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010211",
            "categories": []
        },
        {
            "id": "MIM:278720",
            "database": "MIM",
            "url": "https://www.omim.org/entry/278720",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1LVE4-1",
            "uniprot_ac": "Q1LVE4",
            "uniprot_id": "Q1LVE4_DANRE",
            "refseq_ac": "NP_001038675",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA repair protein complementing XP-C cells",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "xpc",
                    "type": "recommended"
                },
                {
                    "name": "wu:fb12d05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb12d09",
                    "type": "synonym"
                },
                {
                    "name": "xpc",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113032",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LVE4-1",
            "evidence": [
                {
                    "id": "0110844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110844"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51612-1",
            "uniprot_ac": "P51612",
            "uniprot_id": "XPC_MOUSE",
            "refseq_ac": "NP_033557",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA repair protein complementing XP-C cells homolog",
                    "type": "recommended"
                },
                {
                    "name": "DNA repair protein complementing XP-C cells homolog",
                    "type": "synonym"
                },
                {
                    "name": "Xeroderma pigmentosum group C-complementing protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "p125",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum group C-complementing protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Xpc",
                    "type": "recommended"
                },
                {
                    "name": "Xpc",
                    "type": "synonym"
                }
            ],
            "record_id": "P51612-1",
            "evidence": [
                {
                    "id": "0110844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110844"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01831-1",
            "uniprot_ac": "Q01831",
            "uniprot_id": "XPC_HUMAN",
            "refseq_ac": "NP_004619",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA repair protein complementing XP-C cells",
                    "type": "recommended"
                },
                {
                    "name": "DNA repair protein complementing XP-C cells isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair protein complementing XP-C cells",
                    "type": "synonym"
                },
                {
                    "name": "Xeroderma pigmentosum group C-complementing protein",
                    "type": "synonym"
                },
                {
                    "name": "mutant xeroderma pigmentosum group C",
                    "type": "synonym"
                },
                {
                    "name": "p125",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum, complementation group C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "XPC",
                    "type": "recommended"
                },
                {
                    "name": "RAD4",
                    "type": "synonym"
                },
                {
                    "name": "XP3",
                    "type": "synonym"
                },
                {
                    "name": "XPCC",
                    "type": "synonym"
                },
                {
                    "name": "XPC",
                    "type": "synonym"
                },
                {
                    "name": "p125",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01831-1",
            "evidence": [
                {
                    "id": "278720",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/278720"
                },
                {
                    "id": "0110844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110844"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14736-1",
            "uniprot_ac": "P14736",
            "uniprot_id": "RAD4_YEAST",
            "refseq_ac": "NP_011089",
            "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 RAD4",
                    "type": "recommended"
                },
                {
                    "name": "Rad4p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAD4",
                    "type": "recommended"
                },
                {
                    "name": "RAD4",
                    "type": "synonym"
                }
            ],
            "record_id": "P14736-1",
            "evidence": [
                {
                    "id": "0110844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110844"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A3D8-1",
            "uniprot_ac": "D4A3D8",
            "uniprot_id": "D4A3D8_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "p125",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Xpc",
                    "type": "recommended"
                }
            ],
            "record_id": "D4A3D8-1",
            "evidence": [
                {
                    "id": "0110844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110844"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24595-1",
            "uniprot_ac": "Q24595",
            "uniprot_id": "XPC_DROME",
            "refseq_ac": "NP_476861",
            "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 repair protein complementing XP-C cells homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG8153-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mutagen-sensitive 209 protein",
                    "type": "synonym"
                },
                {
                    "name": "XPCDM",
                    "type": "synonym"
                },
                {
                    "name": "Xeroderma pigmentosum group C-complementing protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Xpc-PA",
                    "type": "synonym"
                },
                {
                    "name": "mus210",
                    "type": "synonym"
                },
                {
                    "name": "mutagen-sensitive 210",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum group C complementing factor",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum group C-like",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum, complementation group C, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Xpc",
                    "type": "recommended"
                },
                {
                    "name": "CG8153",
                    "type": "synonym"
                },
                {
                    "name": "DhR4",
                    "type": "synonym"
                },
                {
                    "name": "DhXPC",
                    "type": "synonym"
                },
                {
                    "name": "DmXPC",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8153",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8153",
                    "type": "synonym"
                },
                {
                    "name": "Mus 210",
                    "type": "synonym"
                },
                {
                    "name": "Mus210",
                    "type": "synonym"
                },
                {
                    "name": "XPC[DM]",
                    "type": "synonym"
                },
                {
                    "name": "XPC",
                    "type": "synonym"
                },
                {
                    "name": "Xpcc",
                    "type": "synonym"
                },
                {
                    "name": "Xpc",
                    "type": "synonym"
                },
                {
                    "name": "mus(2)201G1",
                    "type": "synonym"
                },
                {
                    "name": "mus(2)201[GI]",
                    "type": "synonym"
                },
                {
                    "name": "mus(2)201",
                    "type": "synonym"
                },
                {
                    "name": "mus201[G1]",
                    "type": "synonym"
                },
                {
                    "name": "mus210",
                    "type": "synonym"
                },
                {
                    "name": "mus212",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24595-1",
            "evidence": [
                {
                    "id": "0110844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110844"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110844"
}