{
    "disease_id": "DOID:0110848",
    "recommended_name": {
        "id": "DOID:0110848",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110848",
        "name": "xeroderma pigmentosum group F",
        "description": "A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110848",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110848",
            "name": "XP group F",
            "description": ""
        },
        {
            "id": "DOID:0110848",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110848",
            "name": "XP6",
            "description": ""
        },
        {
            "id": "DOID:0110848",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110848",
            "name": "XPF",
            "description": ""
        },
        {
            "id": "DOID:0110848",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110848",
            "name": "xeroderma pigmentosum VI",
            "description": ""
        },
        {
            "id": "MONDO:0010215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010215",
            "name": "xeroderma pigmentosum group F",
            "description": "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene."
        },
        {
            "id": "MONDO:0010215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010215",
            "name": "ERCC4 xeroderma pigmentosum",
            "description": ""
        },
        {
            "id": "MONDO:0010215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010215",
            "name": "XP, group F",
            "description": ""
        },
        {
            "id": "MONDO:0010215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010215",
            "name": "XP-F",
            "description": ""
        },
        {
            "id": "MONDO:0010215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010215",
            "name": "XP6",
            "description": ""
        },
        {
            "id": "MONDO:0010215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010215",
            "name": "XPF",
            "description": ""
        },
        {
            "id": "MONDO:0010215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010215",
            "name": "xeroderma pigmentosum caused by mutation in ERCC4",
            "description": ""
        },
        {
            "id": "MONDO:0010215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010215",
            "name": "xeroderma pigmentosum group F",
            "description": ""
        },
        {
            "id": "MONDO:0010215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010215",
            "name": "xeroderma pigmentosum group type F",
            "description": ""
        },
        {
            "id": "MONDO:0010215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010215",
            "name": "xeroderma pigmentosum, complementation group type F",
            "description": ""
        },
        {
            "id": "MONDO:0010215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010215",
            "name": "xeroderma pigmentosum, group F",
            "description": ""
        },
        {
            "id": "MONDO:0010215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010215",
            "name": "xeroderma pigmentosum, complementation group F",
            "description": ""
        },
        {
            "id": "MONDO:0010215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010215",
            "name": "xeroderma pigmentosum, type 6",
            "description": ""
        },
        {
            "id": "MIM:278760",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/278760",
            "name": "Xeroderma pigmentosum complementation group F",
            "description": "Xeroderma pigmentosum complementation group F"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110848"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110848",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110848",
            "categories": []
        },
        {
            "id": "MONDO:0010215",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010215",
            "categories": []
        },
        {
            "id": "MIM:278760",
            "database": "MIM",
            "url": "https://www.omim.org/entry/278760",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32U361-1",
            "uniprot_ac": "A0AB32U361",
            "uniprot_id": "A0AB32U361_DANRE",
            "refseq_ac": "XP_068080626",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA repair endonuclease XPF",
                    "type": "recommended"
                },
                {
                    "name": "DNA excision repair protein ERCC-4",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair endonuclease XPF isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ercc4",
                    "type": "recommended"
                },
                {
                    "name": "ercc4",
                    "type": "synonym"
                },
                {
                    "name": "fancq",
                    "type": "synonym"
                },
                {
                    "name": "fi03a05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi03a05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63468",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32U361-1",
            "evidence": [
                {
                    "id": "0110848",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110848"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QZD4-1",
            "uniprot_ac": "Q9QZD4",
            "uniprot_id": "XPF_MOUSE",
            "refseq_ac": "NP_056584",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA repair endonuclease XPF",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-4",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair endonuclease XPF",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair endonuclease subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ercc4",
                    "type": "recommended"
                },
                {
                    "name": "Ercc4",
                    "type": "synonym"
                },
                {
                    "name": "Xpf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZD4-1",
            "evidence": [
                {
                    "id": "0110848",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110848"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92889-1",
            "uniprot_ac": "Q92889",
            "uniprot_id": "XPF_HUMAN",
            "refseq_ac": "NP_005227",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA repair endonuclease XPF",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-4",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair endonuclease XPF",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair protein complementing XP-F cells",
                    "type": "synonym"
                },
                {
                    "name": "Xeroderma pigmentosum group F-complementing protein",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementation group 4",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementing rodent repair deficiency, complementation group 4",
                    "type": "synonym"
                },
                {
                    "name": "excision-repair, complementing defective, in Chinese hamster",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum group F-complementing protein",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum, complementation group F",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERCC4",
                    "type": "recommended"
                },
                {
                    "name": "ERCC11",
                    "type": "synonym"
                },
                {
                    "name": "ERCC4",
                    "type": "synonym"
                },
                {
                    "name": "FANCQ",
                    "type": "synonym"
                },
                {
                    "name": "RAD1",
                    "type": "synonym"
                },
                {
                    "name": "XFEPS",
                    "type": "synonym"
                },
                {
                    "name": "XPF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92889-1",
            "evidence": [
                {
                    "id": "278760",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/278760"
                },
                {
                    "id": "0110848",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110848"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06777-1",
            "uniprot_ac": "P06777",
            "uniprot_id": "RAD1_YEAST",
            "refseq_ac": "NP_015303",
            "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 RAD1",
                    "type": "recommended"
                },
                {
                    "name": "ssDNA endodeoxyribonuclease RAD1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAD1",
                    "type": "recommended"
                },
                {
                    "name": "LPB9",
                    "type": "synonym"
                },
                {
                    "name": "RAD12",
                    "type": "synonym"
                },
                {
                    "name": "RAD1",
                    "type": "synonym"
                }
            ],
            "record_id": "P06777-1",
            "evidence": [
                {
                    "id": "0110848",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110848"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZT95-1",
            "uniprot_ac": "D3ZT95",
            "uniprot_id": "D3ZT95_RAT",
            "refseq_ac": "XP_038942942",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA repair endonuclease XPF",
                    "type": "recommended"
                },
                {
                    "name": "DNA excision repair protein ERCC-4",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair endonuclease XPF isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ercc4l1",
                    "type": "recommended"
                },
                {
                    "name": "Ercc4",
                    "type": "recommended"
                },
                {
                    "name": "Ercc4l1",
                    "type": "synonym"
                },
                {
                    "name": "Ercc4",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZT95-1",
            "evidence": [
                {
                    "id": "0110848",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110848"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43118-1",
            "uniprot_ac": "P43118",
            "uniprot_id": "PF2R_RAT",
            "refseq_ac": "NP_037247",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prostaglandin F2-alpha receptor",
                    "type": "recommended"
                },
                {
                    "name": "PGF receptor",
                    "type": "synonym"
                },
                {
                    "name": "PGF2-alpha receptor",
                    "type": "synonym"
                },
                {
                    "name": "Prostanoid FP receptor",
                    "type": "synonym"
                },
                {
                    "name": "prostaglandin F2-alpha receptor",
                    "type": "synonym"
                },
                {
                    "name": "prostanoid FP receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptgfr",
                    "type": "recommended"
                },
                {
                    "name": "PF2AR",
                    "type": "synonym"
                },
                {
                    "name": "Ptgfr",
                    "type": "synonym"
                }
            ],
            "record_id": "P43118-1",
            "evidence": [
                {
                    "id": "0110848",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110848"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24087-1",
            "uniprot_ac": "Q24087",
            "uniprot_id": "XPF_DROME",
            "refseq_ac": "NP_001284859",
            "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 endonuclease XPF",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG3697-PB",
                    "type": "synonym"
                },
                {
                    "name": "Protein meiotic 9",
                    "type": "synonym"
                },
                {
                    "name": "mei-9-PB",
                    "type": "synonym"
                },
                {
                    "name": "meiotic 9, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "meiotic-9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mei-9",
                    "type": "recommended"
                },
                {
                    "name": "CG3697",
                    "type": "synonym"
                },
                {
                    "name": "DhR1",
                    "type": "synonym"
                },
                {
                    "name": "DmXPF",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3697",
                    "type": "synonym"
                },
                {
                    "name": "MEI-9",
                    "type": "synonym"
                },
                {
                    "name": "Mei-9",
                    "type": "synonym"
                },
                {
                    "name": "Rad1p",
                    "type": "synonym"
                },
                {
                    "name": "mei-9",
                    "type": "synonym"
                },
                {
                    "name": "mei9",
                    "type": "synonym"
                },
                {
                    "name": "mus(1)110",
                    "type": "synonym"
                },
                {
                    "name": "mus110",
                    "type": "synonym"
                },
                {
                    "name": "xpf/mei-9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24087-1",
            "evidence": [
                {
                    "id": "0110848",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110848"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110848"
}