{
    "disease_id": "DOID:0110843",
    "recommended_name": {
        "id": "DOID:0110843",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110843",
        "name": "xeroderma pigmentosum group A",
        "description": "A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110843",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110843",
            "name": "XP group A",
            "description": ""
        },
        {
            "id": "DOID:0110843",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110843",
            "name": "XP1",
            "description": ""
        },
        {
            "id": "DOID:0110843",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110843",
            "name": "XPA",
            "description": ""
        },
        {
            "id": "DOID:0110843",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110843",
            "name": "xeroderma pigmentosum 1",
            "description": ""
        },
        {
            "id": "DOID:0110843",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110843",
            "name": "xeroderma pigmentosum complementation group A",
            "description": ""
        },
        {
            "id": "MONDO:0010210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010210",
            "name": "xeroderma pigmentosum group A",
            "description": "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene."
        },
        {
            "id": "MONDO:0010210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010210",
            "name": "XP-A",
            "description": ""
        },
        {
            "id": "MONDO:0010210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010210",
            "name": "XP1",
            "description": ""
        },
        {
            "id": "MONDO:0010210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010210",
            "name": "XPA",
            "description": ""
        },
        {
            "id": "MONDO:0010210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010210",
            "name": "XPA xeroderma pigmentosum",
            "description": ""
        },
        {
            "id": "MONDO:0010210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010210",
            "name": "xeroderma pigmentosum 1",
            "description": ""
        },
        {
            "id": "MONDO:0010210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010210",
            "name": "xeroderma pigmentosum caused by mutation in XPA",
            "description": ""
        },
        {
            "id": "MONDO:0010210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010210",
            "name": "xeroderma pigmentosum group A",
            "description": ""
        },
        {
            "id": "MONDO:0010210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010210",
            "name": "xeroderma pigmentosum group type A",
            "description": ""
        },
        {
            "id": "MONDO:0010210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010210",
            "name": "xeroderma pigmentosum, complementation group type a",
            "description": ""
        },
        {
            "id": "MONDO:0010210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010210",
            "name": "xeroderma pigmentosum, group A",
            "description": ""
        },
        {
            "id": "MONDO:0010210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010210",
            "name": "xeroderma pigmentosum, complementation group A",
            "description": ""
        },
        {
            "id": "MONDO:0010210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010210",
            "name": "xeroderma pigmentosum, type 1",
            "description": ""
        },
        {
            "id": "MIM:278700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/278700",
            "name": "Xeroderma pigmentosum complementation group A",
            "description": "Xeroderma pigmentosum complementation group A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110843"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110843",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110843",
            "categories": []
        },
        {
            "id": "MONDO:0010210",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010210",
            "categories": []
        },
        {
            "id": "MIM:278700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/278700",
            "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": "0110843",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110843"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64267-1",
            "uniprot_ac": "Q64267",
            "uniprot_id": "XPA_MOUSE",
            "refseq_ac": "NP_035858",
            "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-A cells homolog",
                    "type": "recommended"
                },
                {
                    "name": "DNA repair protein complementing XP-A cells homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair protein complementing XP-A cells homolog",
                    "type": "synonym"
                },
                {
                    "name": "Xeroderma pigmentosum group A-complementing protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum group A-complementing protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Xpa",
                    "type": "recommended"
                },
                {
                    "name": "Xpac",
                    "type": "synonym"
                },
                {
                    "name": "Xpa",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64267-1",
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                {
                    "id": "0110843",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110843"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QZD4-1",
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            "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.-.-",
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                },
                {
                    "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": "0110843",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110843"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23025-1",
            "uniprot_ac": "P23025",
            "uniprot_id": "XPA_HUMAN",
            "refseq_ac": "NP_000371",
            "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-A cells",
                    "type": "recommended"
                },
                {
                    "name": "DNA repair protein complementing XP-A cells isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair protein complementing XP-A cells",
                    "type": "synonym"
                },
                {
                    "name": "Xeroderma pigmentosum group A-complementing protein",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum group A-complementing protein",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum, complementation group A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "XPA",
                    "type": "recommended"
                },
                {
                    "name": "XP1",
                    "type": "synonym"
                },
                {
                    "name": "XPAC",
                    "type": "synonym"
                },
                {
                    "name": "XPA",
                    "type": "synonym"
                }
            ],
            "record_id": "P23025-1",
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                {
                    "id": "278700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/278700"
                },
                {
                    "id": "0110843",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110843"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28519-1",
            "uniprot_ac": "P28519",
            "uniprot_id": "RAD14_YEAST",
            "refseq_ac": "NP_013928",
            "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 RAD14",
                    "type": "recommended"
                },
                {
                    "name": "DNA repair protein RAD14",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "RAD14",
                    "type": "recommended"
                },
                {
                    "name": "RAD14",
                    "type": "synonym"
                },
                {
                    "name": "YM8325.02C",
                    "type": "synonym"
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            ],
            "record_id": "P28519-1",
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                {
                    "id": "0110843",
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            ]
        },
        {
            "uniprot_canonical_ac": "P06777-1",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
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                    "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"
                }
            ],
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                {
                    "name": "RAD1",
                    "type": "recommended"
                },
                {
                    "name": "LPB9",
                    "type": "synonym"
                },
                {
                    "name": "RAD12",
                    "type": "synonym"
                },
                {
                    "name": "RAD1",
                    "type": "synonym"
                }
            ],
            "record_id": "P06777-1",
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                {
                    "id": "0110843",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M0X7-1",
            "uniprot_ac": "A0ABK0M0X7",
            "uniprot_id": "A0ABK0M0X7_RAT",
            "refseq_ac": "XP_006238097",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA repair protein complementing XP-A cells homolog",
                    "type": "recommended"
                },
                {
                    "name": "DNA repair protein complementing XP-A cells isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "Xeroderma pigmentosum group A-complementing protein homolog",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Xpa",
                    "type": "recommended"
                },
                {
                    "name": "Xpa",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110843",
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            "uniprot_canonical_ac": "D3ZT95-1",
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            "refseq_ac": "XP_038942942",
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                {
                    "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",
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                },
                {
                    "name": "Ercc4",
                    "type": "synonym"
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            ],
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                {
                    "id": "0110843",
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                }
            ]
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            "uniprot_canonical_ac": "P43118-1",
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                {
                    "name": "Rattus norvegicus",
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                    "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",
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            ],
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                {
                    "name": "Ptgfr",
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                    "name": "PF2AR",
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                    "name": "Ptgfr",
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                    "id": "0110843",
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                }
            ]
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            "uniprot_canonical_ac": "P28518-1",
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                {
                    "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-A cells homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG6358-PA",
                    "type": "synonym"
                },
                {
                    "name": "Xeroderma pigmentosum group A-complementing protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Xpac-PA",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum group A-like",
                    "type": "synonym"
                }
            ],
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                    "name": "Xpac",
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                    "name": "CG6358",
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                    "name": "DhR14",
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                {
                    "name": "DhXPA",
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                {
                    "name": "DmXPA",
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                {
                    "name": "Dmel\\CG6358",
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                },
                {
                    "name": "Dxpa",
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                },
                {
                    "name": "EG:EG0007.8",
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                },
                {
                    "name": "XPAC",
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                },
                {
                    "name": "XPA_DROME",
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                },
                {
                    "name": "XPA",
                    "type": "synonym"
                },
                {
                    "name": "Xpac",
                    "type": "synonym"
                },
                {
                    "name": "Xpa",
                    "type": "synonym"
                },
                {
                    "name": "dmXPA",
                    "type": "synonym"
                },
                {
                    "name": "dxpa",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110843",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110843"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q24087-1",
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                {
                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA repair endonuclease XPF",
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                },
                {
                    "name": "3.1.-.-",
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                },
                {
                    "name": "CG3697-PB",
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                },
                {
                    "name": "Protein meiotic 9",
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                },
                {
                    "name": "mei-9-PB",
                    "type": "synonym"
                },
                {
                    "name": "meiotic 9, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "meiotic-9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "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": "0110843",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110843"
                }
            ]
        },
        {
            "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": "0110843",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110843"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110843"
}