{
    "disease_id": "DOID:0110849",
    "recommended_name": {
        "id": "DOID:0110849",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110849",
        "name": "xeroderma pigmentosum group G",
        "description": "A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33."
    },
    "synonyms": [
        {
            "id": "DOID:0110849",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110849",
            "name": "XP group G",
            "description": ""
        },
        {
            "id": "DOID:0110849",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110849",
            "name": "XP7",
            "description": ""
        },
        {
            "id": "DOID:0110849",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110849",
            "name": "XPG",
            "description": ""
        },
        {
            "id": "DOID:0110849",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110849",
            "name": "xeroderma pigmentosum VII",
            "description": ""
        },
        {
            "id": "MONDO:0010216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010216",
            "name": "xeroderma pigmentosum group G",
            "description": "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene."
        },
        {
            "id": "MONDO:0010216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010216",
            "name": "ERCC5 xeroderma pigmentosum",
            "description": ""
        },
        {
            "id": "MONDO:0010216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010216",
            "name": "XP-G",
            "description": ""
        },
        {
            "id": "MONDO:0010216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010216",
            "name": "XP7",
            "description": ""
        },
        {
            "id": "MONDO:0010216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010216",
            "name": "XPG",
            "description": ""
        },
        {
            "id": "MONDO:0010216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010216",
            "name": "xeroderma pigmentosum caused by mutation in ERCC5",
            "description": ""
        },
        {
            "id": "MONDO:0010216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010216",
            "name": "xeroderma pigmentosum group G",
            "description": ""
        },
        {
            "id": "MONDO:0010216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010216",
            "name": "xeroderma pigmentosum group type G",
            "description": ""
        },
        {
            "id": "MONDO:0010216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010216",
            "name": "xeroderma pigmentosum, complementation group type G",
            "description": ""
        },
        {
            "id": "MONDO:0010216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010216",
            "name": "xeroderma pigmentosum, group G",
            "description": ""
        },
        {
            "id": "MONDO:0010216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010216",
            "name": "xeroderma pigmentosum, group G/Cockayne syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010216",
            "name": "xeroderma pigmentosum complementation group G",
            "description": ""
        },
        {
            "id": "MONDO:0010216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010216",
            "name": "xeroderma pigmentosum type 7",
            "description": ""
        },
        {
            "id": "MONDO:0010216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010216",
            "name": "xeroderma pigmentosum, complementation group G",
            "description": ""
        },
        {
            "id": "MIM:278780",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/278780",
            "name": "Xeroderma pigmentosum complementation group G",
            "description": "Xeroderma pigmentosum complementation group G"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110849"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110849",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110849",
            "categories": []
        },
        {
            "id": "MONDO:0010216",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010216",
            "categories": []
        },
        {
            "id": "MIM:278780",
            "database": "MIM",
            "url": "https://www.omim.org/entry/278780",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QJS3-1",
            "uniprot_ac": "F1QJS3",
            "uniprot_id": "F1QJS3_DANRE",
            "refseq_ac": "XP_003197653",
            "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-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ercc5",
                    "type": "recommended"
                },
                {
                    "name": "ercc5",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QJS3-1",
            "evidence": [
                {
                    "id": "0110849",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110849"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35689-1",
            "uniprot_ac": "P35689",
            "uniprot_id": "ERCC5_MOUSE",
            "refseq_ac": "",
            "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-5",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair protein complementing XP-G cells homolog",
                    "type": "synonym"
                },
                {
                    "name": "Xeroderma pigmentosum group G-complementing protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ercc5",
                    "type": "recommended"
                },
                {
                    "name": "Ercc-5",
                    "type": "synonym"
                },
                {
                    "name": "Xpg",
                    "type": "synonym"
                }
            ],
            "record_id": "P35689-1",
            "evidence": [
                {
                    "id": "0110849",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110849"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28715-1",
            "uniprot_ac": "P28715",
            "uniprot_id": "ERCC5_HUMAN",
            "refseq_ac": "",
            "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-5",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair protein complementing XP-G cells",
                    "type": "synonym"
                },
                {
                    "name": "XPG",
                    "type": "synonym"
                },
                {
                    "name": "Xeroderma pigmentosum group G-complementing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERCC5",
                    "type": "recommended"
                },
                {
                    "name": "ERCM2",
                    "type": "synonym"
                },
                {
                    "name": "XPGC",
                    "type": "synonym"
                },
                {
                    "name": "XPG",
                    "type": "synonym"
                }
            ],
            "record_id": "P28715-1",
            "evidence": [
                {
                    "id": "278780",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/278780"
                },
                {
                    "id": "0110849",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110849"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07276-1",
            "uniprot_ac": "P07276",
            "uniprot_id": "RAD2_YEAST",
            "refseq_ac": "NP_011774",
            "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 RAD2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "ssDNA endodeoxyribonuclease RAD2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAD2",
                    "type": "recommended"
                },
                {
                    "name": "RAD2",
                    "type": "synonym"
                }
            ],
            "record_id": "P07276-1",
            "evidence": [
                {
                    "id": "0110849",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110849"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZTV2-1",
            "uniprot_ac": "D3ZTV2",
            "uniprot_id": "D3ZTV2_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": "DNA excision repair protein ERCC-5",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Ercc5",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZTV2-1",
            "evidence": [
                {
                    "id": "0110849",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110849"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62786-1",
            "uniprot_ac": "Q62786",
            "uniprot_id": "FPRP_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": "Prostaglandin F2 receptor negative regulator",
                    "type": "recommended"
                },
                {
                    "name": "CD9 partner 1",
                    "type": "synonym"
                },
                {
                    "name": "CD9P-1",
                    "type": "synonym"
                },
                {
                    "name": "EWI-F",
                    "type": "synonym"
                },
                {
                    "name": "Glu-Trp-Ile EWI motif-containing protein F",
                    "type": "synonym"
                },
                {
                    "name": "Prostaglandin F2-alpha receptor regulatory protein",
                    "type": "synonym"
                },
                {
                    "name": "Prostaglandin F2-alpha receptor-associated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptgfrn",
                    "type": "recommended"
                },
                {
                    "name": "Fprp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62786-1",
            "evidence": [
                {
                    "id": "0110849",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110849"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110849"
}