{
    "disease_id": "DOID:0110845",
    "recommended_name": {
        "id": "DOID:0110845",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110845",
        "name": "xeroderma pigmentosum group D",
        "description": "A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110845",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110845",
            "name": "XP group D",
            "description": ""
        },
        {
            "id": "DOID:0110845",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110845",
            "name": "XP group H",
            "description": ""
        },
        {
            "id": "DOID:0110845",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110845",
            "name": "XP4",
            "description": ""
        },
        {
            "id": "DOID:0110845",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110845",
            "name": "XP8",
            "description": ""
        },
        {
            "id": "DOID:0110845",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110845",
            "name": "XPD",
            "description": ""
        },
        {
            "id": "DOID:0110845",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110845",
            "name": "XPDC",
            "description": ""
        },
        {
            "id": "DOID:0110845",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110845",
            "name": "XPH",
            "description": ""
        },
        {
            "id": "DOID:0110845",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110845",
            "name": "xeroderma pigmentosum IV",
            "description": ""
        },
        {
            "id": "DOID:0110845",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110845",
            "name": "xeroderma pigmentosum VIII",
            "description": ""
        },
        {
            "id": "MONDO:0010212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010212",
            "name": "xeroderma pigmentosum group D",
            "description": "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene."
        },
        {
            "id": "MONDO:0010212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010212",
            "name": "ERCC2 xeroderma pigmentosum",
            "description": ""
        },
        {
            "id": "MONDO:0010212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010212",
            "name": "XP-D",
            "description": ""
        },
        {
            "id": "MONDO:0010212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010212",
            "name": "XP4",
            "description": ""
        },
        {
            "id": "MONDO:0010212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010212",
            "name": "XPD",
            "description": ""
        },
        {
            "id": "MONDO:0010212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010212",
            "name": "XPDC",
            "description": ""
        },
        {
            "id": "MONDO:0010212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010212",
            "name": "xeroderma pigmentosum caused by mutation in ERCC2",
            "description": ""
        },
        {
            "id": "MONDO:0010212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010212",
            "name": "xeroderma pigmentosum group D",
            "description": ""
        },
        {
            "id": "MONDO:0010212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010212",
            "name": "xeroderma pigmentosum group type D",
            "description": ""
        },
        {
            "id": "MONDO:0010212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010212",
            "name": "xeroderma pigmentosum, complementation group type D",
            "description": ""
        },
        {
            "id": "MONDO:0010212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010212",
            "name": "xeroderma pigmentosum, group D",
            "description": ""
        },
        {
            "id": "MONDO:0010212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010212",
            "name": "XP, Group H",
            "description": ""
        },
        {
            "id": "MONDO:0010212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010212",
            "name": "xeroderma pigmentosum, complementation group D",
            "description": ""
        },
        {
            "id": "MIM:278730",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/278730",
            "name": "Xeroderma pigmentosum complementation group D",
            "description": "Xeroderma pigmentosum complementation group D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110845"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110845",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110845",
            "categories": []
        },
        {
            "id": "MONDO:0010212",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010212",
            "categories": []
        },
        {
            "id": "MIM:278730",
            "database": "MIM",
            "url": "https://www.omim.org/entry/278730",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "O08811-1",
            "uniprot_ac": "O08811",
            "uniprot_id": "ERCC2_MOUSE",
            "refseq_ac": "NP_031975",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "General transcription and DNA repair factor IIH helicase subunit XPD",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "CXPD",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-3' helicase XPD",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-2",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair protein complementing XP-D cells",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH basal transcription factor complex helicase XPD subunit",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH subunit XPD",
                    "type": "synonym"
                },
                {
                    "name": "Xeroderma pigmentosum group D-complementing protein",
                    "type": "synonym"
                },
                {
                    "name": "general transcription and DNA repair factor IIH helicase subunit XPD isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "general transcription and DNA repair factor IIH helicase subunit XPD",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum group D-complementing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ercc2",
                    "type": "recommended"
                },
                {
                    "name": "CXPD",
                    "type": "synonym"
                },
                {
                    "name": "Ercc-2",
                    "type": "synonym"
                },
                {
                    "name": "Ercc2",
                    "type": "synonym"
                },
                {
                    "name": "Mhdarco15",
                    "type": "synonym"
                },
                {
                    "name": "RCO015",
                    "type": "synonym"
                },
                {
                    "name": "XPD",
                    "type": "synonym"
                },
                {
                    "name": "Xpd",
                    "type": "synonym"
                }
            ],
            "record_id": "O08811-1",
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                {
                    "id": "0110845",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110845"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18074-1",
            "uniprot_ac": "P18074",
            "uniprot_id": "ERCC2_HUMAN",
            "refseq_ac": "NP_000391",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "General transcription and DNA repair factor IIH helicase subunit XPD",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "BTF2 p80",
                    "type": "synonym"
                },
                {
                    "name": "Basic transcription factor 2 80 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "CXPD",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-3' helicase XPD",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-2",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair protein complementing XP-D cells",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH 80 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH basal transcription factor complex 80 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH basal transcription factor complex helicase XPD subunit",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH p80",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH subunit XPD",
                    "type": "synonym"
                },
                {
                    "name": "Xeroderma pigmentosum group D-complementing protein",
                    "type": "synonym"
                },
                {
                    "name": "basic transcription factor 2 80 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementation group 2",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementing rodent repair deficiency, complementation group 2",
                    "type": "synonym"
                },
                {
                    "name": "general transcription and DNA repair factor IIH helicase subunit XPD isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "general transcription and DNA repair factor IIH helicase subunit XPD",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum complementary group D",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum group D-complementing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERCC2",
                    "type": "recommended"
                },
                {
                    "name": "COFS2",
                    "type": "synonym"
                },
                {
                    "name": "CXPD",
                    "type": "synonym"
                },
                {
                    "name": "EM9",
                    "type": "synonym"
                },
                {
                    "name": "ERCC2",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH",
                    "type": "synonym"
                },
                {
                    "name": "TTD1",
                    "type": "synonym"
                },
                {
                    "name": "TTD",
                    "type": "synonym"
                },
                {
                    "name": "XPDC",
                    "type": "synonym"
                },
                {
                    "name": "XPD",
                    "type": "synonym"
                }
            ],
            "record_id": "P18074-1",
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                    "id": "278730",
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                },
                {
                    "id": "0110845",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110845"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06839-1",
            "uniprot_ac": "P06839",
            "uniprot_id": "RAD3_YEAST",
            "refseq_ac": "NP_011098",
            "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": "General transcription and DNA repair factor IIH helicase subunit XPD/RAD3",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-3' helicase RAD3",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair helicase RAD3",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase II transcription factor B subunit RAD3",
                    "type": "synonym"
                },
                {
                    "name": "TFB subunit RAD3",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH subunit XPD",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH/NER complex ATP-dependent 5'-3' DNA helicase subunit RAD3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAD3",
                    "type": "recommended"
                },
                {
                    "name": "RAD3",
                    "type": "synonym"
                },
                {
                    "name": "REM1",
                    "type": "synonym"
                }
            ],
            "record_id": "P06839-1",
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                {
                    "id": "0110845",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110845"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AH26-1",
            "uniprot_ac": "A0A8I6AH26",
            "uniprot_id": "A0A8I6AH26_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": "General transcription and DNA repair factor IIH helicase subunit XPD",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
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                },
                {
                    "name": "CXPD",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-3' helicase XPD",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-2",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair protein complementing XP-D cells",
                    "type": "synonym"
                },
                {
                    "name": "Xeroderma pigmentosum group D-complementing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ercc2",
                    "type": "recommended"
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            ],
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                    "id": "0110845",
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                }
            ]
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            "uniprot_canonical_ac": "P70597-1",
            "uniprot_ac": "P70597",
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            "refseq_ac": "NP_001265404",
            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prostaglandin E2 receptor EP1 subtype",
                    "type": "recommended"
                },
                {
                    "name": "EP1 prostanoid receptor",
                    "type": "synonym"
                },
                {
                    "name": "PGE receptor EP1 subtype",
                    "type": "synonym"
                },
                {
                    "name": "PGE receptor, EP1 subtype",
                    "type": "synonym"
                },
                {
                    "name": "PGE2 receptor EP1 subtype",
                    "type": "synonym"
                },
                {
                    "name": "Prostanoid EP1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "prostaglandin E receptor 1 (subtype EP1)",
                    "type": "synonym"
                },
                {
                    "name": "prostaglandin E receptor EP1 subtype",
                    "type": "synonym"
                },
                {
                    "name": "prostaglandin E2 receptor EP1 subtype",
                    "type": "synonym"
                },
                {
                    "name": "prostanoid EP1 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptger1",
                    "type": "recommended"
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                {
                    "name": "EP1",
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                },
                {
                    "name": "Ptger1",
                    "type": "synonym"
                }
            ],
            "record_id": "P70597-1",
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                {
                    "id": "0110845",
                    "database": "AGR",
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                }
            ]
        },
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            "uniprot_canonical_ac": "Q7KVP9-1",
            "uniprot_ac": "Q7KVP9",
            "uniprot_id": "Q7KVP9_DROME",
            "refseq_ac": "NP_726036",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "General transcription and DNA repair factor IIH helicase subunit XPD",
                    "type": "recommended"
                },
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                    "name": "5.6.2.3",
                    "type": "synonym"
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                    "name": "CG9433-PA",
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                    "name": "CXPD",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-3' helicase XPD",
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                },
                {
                    "name": "DNA excision repair protein ERCC-2",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair protein complementing XP-D cells",
                    "type": "synonym"
                },
                {
                    "name": "Xeroderma pigmentosum group D-complementing protein",
                    "type": "synonym"
                },
                {
                    "name": "Xpd-PA",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) SH2137",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum D ortholog",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum D",
                    "type": "synonym"
                }
            ],
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                    "name": "Xpd",
                    "type": "recommended"
                },
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                    "name": "CG9433",
                    "type": "synonym"
                },
                {
                    "name": "DhR3",
                    "type": "synonym"
                },
                {
                    "name": "DhXPD",
                    "type": "synonym"
                },
                {
                    "name": "DmXPD",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9433",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9433",
                    "type": "synonym"
                },
                {
                    "name": "ERCC2",
                    "type": "synonym"
                },
                {
                    "name": "XPD/ERCC2",
                    "type": "synonym"
                },
                {
                    "name": "XPD",
                    "type": "synonym"
                },
                {
                    "name": "Xpd",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH2 2137",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH2137",
                    "type": "synonym"
                },
                {
                    "name": "xpd",
                    "type": "synonym"
                }
            ],
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                    "id": "0110845",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110845"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110845"
}