{
    "disease_id": "DOID:0110850",
    "recommended_name": {
        "id": "DOID:0110850",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110850",
        "name": "xeroderma pigmentosum group B",
        "description": "A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ERCC3 gene on chromosome 2q14."
    },
    "synonyms": [
        {
            "id": "DOID:0110850",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110850",
            "name": "XP group B",
            "description": ""
        },
        {
            "id": "DOID:0110850",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110850",
            "name": "XPB",
            "description": ""
        },
        {
            "id": "DOID:0110850",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110850",
            "name": "XPBC",
            "description": ""
        },
        {
            "id": "MONDO:0012531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012531",
            "name": "xeroderma pigmentosum group B",
            "description": "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene."
        },
        {
            "id": "MONDO:0012531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012531",
            "name": "ERCC3 xeroderma pigmentosum",
            "description": ""
        },
        {
            "id": "MONDO:0012531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012531",
            "name": "XP, Group B",
            "description": ""
        },
        {
            "id": "MONDO:0012531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012531",
            "name": "XP-B",
            "description": ""
        },
        {
            "id": "MONDO:0012531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012531",
            "name": "XPB",
            "description": ""
        },
        {
            "id": "MONDO:0012531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012531",
            "name": "XPBC",
            "description": ""
        },
        {
            "id": "MONDO:0012531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012531",
            "name": "xeroderma pigmentosum caused by mutation in ERCC3",
            "description": ""
        },
        {
            "id": "MONDO:0012531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012531",
            "name": "xeroderma pigmentosum group B",
            "description": ""
        },
        {
            "id": "MONDO:0012531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012531",
            "name": "xeroderma pigmentosum group type B",
            "description": ""
        },
        {
            "id": "MONDO:0012531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012531",
            "name": "xeroderma pigmentosum, complementation group type B",
            "description": ""
        },
        {
            "id": "MONDO:0012531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012531",
            "name": "xeroderma pigmentosum, group B",
            "description": ""
        },
        {
            "id": "MONDO:0012531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012531",
            "name": "xeroderma pigmentosum, complementation group B",
            "description": ""
        },
        {
            "id": "MONDO:0012531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012531",
            "name": "xeroderma pigmentosum, type 2",
            "description": ""
        },
        {
            "id": "MIM:610651",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610651",
            "name": "Xeroderma pigmentosum complementation group B",
            "description": "Xeroderma pigmentosum complementation group B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110850"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110850",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110850",
            "categories": []
        },
        {
            "id": "MONDO:0012531",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012531",
            "categories": []
        },
        {
            "id": "MIM:610651",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610651",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZVV1-1",
            "uniprot_ac": "Q7ZVV1",
            "uniprot_id": "ERCC3_DANRE",
            "refseq_ac": "NP_963876",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "General transcription and DNA repair factor IIH helicase/translocase subunit XPB",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase/translocase XPB",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-3",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH basal transcription factor complex helicase XPB subunit",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH subunit XPB",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementing rodent repair deficiency, complementation group 3",
                    "type": "synonym"
                },
                {
                    "name": "general transcription and DNA repair factor IIH helicase subunit XPB",
                    "type": "synonym"
                },
                {
                    "name": "general transcription and DNA repair factor IIH helicase/translocase subunit XPB",
                    "type": "synonym"
                },
                {
                    "name": "xpb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ercc3",
                    "type": "recommended"
                },
                {
                    "name": "ercc3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc25f08",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZVV1-1",
            "evidence": [
                {
                    "id": "0110850",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110850"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49135-1",
            "uniprot_ac": "P49135",
            "uniprot_id": "ERCC3_MOUSE",
            "refseq_ac": "NP_598419",
            "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/translocase subunit XPB",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "BTF2 p89",
                    "type": "synonym"
                },
                {
                    "name": "Basic transcription factor 2 89 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase/translocase XPB",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-3",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair protein complementing XP-B cells",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH 89 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH basal transcription factor complex helicase XPB subunit",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH subunit XPB",
                    "type": "synonym"
                },
                {
                    "name": "Xeroderma pigmentosum group B-complementing protein",
                    "type": "synonym"
                },
                {
                    "name": "basic transcription factor 2 89 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "general transcription and DNA repair factor IIH helicase subunit XPB",
                    "type": "synonym"
                },
                {
                    "name": "general transcription and DNA repair factor IIH helicase/translocase subunit XPB",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum group B-complementing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ercc3",
                    "type": "recommended"
                },
                {
                    "name": "BTF2 p89",
                    "type": "synonym"
                },
                {
                    "name": "Ercc-3",
                    "type": "synonym"
                },
                {
                    "name": "Ercc3",
                    "type": "synonym"
                },
                {
                    "name": "XPB",
                    "type": "synonym"
                },
                {
                    "name": "Xpbc",
                    "type": "synonym"
                },
                {
                    "name": "Xpb",
                    "type": "synonym"
                }
            ],
            "record_id": "P49135-1",
            "evidence": [
                {
                    "id": "0110850",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110850"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19447-1",
            "uniprot_ac": "P19447",
            "uniprot_id": "ERCC3_HUMAN",
            "refseq_ac": "NP_000113",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "General transcription and DNA repair factor IIH helicase/translocase subunit XPB",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "BTF2 p89",
                    "type": "synonym"
                },
                {
                    "name": "Basic transcription factor 2 89 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase/translocase XPB",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-3",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair helicase",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair protein complementing XP-B cells",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH 89 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH basal transcription factor complex 89 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH basal transcription factor complex helicase XPB subunit",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH p89",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH subunit XPB",
                    "type": "synonym"
                },
                {
                    "name": "Xeroderma pigmentosum group B-complementing protein",
                    "type": "synonym"
                },
                {
                    "name": "basic transcription factor 2 89 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementation group 3",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementing rodent repair deficiency, complementation group 3",
                    "type": "synonym"
                },
                {
                    "name": "general transcription and DNA repair factor IIH helicase subunit XPB",
                    "type": "synonym"
                },
                {
                    "name": "general transcription and DNA repair factor IIH helicase/translocase subunit XPB isoform a",
                    "type": "synonym"
                },
                {
                    "name": "general transcription and DNA repair factor IIH helicase/translocase subunit XPB",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum group B-complementing protein",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum, complementation group B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERCC3",
                    "type": "recommended"
                },
                {
                    "name": "BTF2",
                    "type": "synonym"
                },
                {
                    "name": "ERCC3",
                    "type": "synonym"
                },
                {
                    "name": "GTF2H",
                    "type": "synonym"
                },
                {
                    "name": "RAD25",
                    "type": "synonym"
                },
                {
                    "name": "Ssl2",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH",
                    "type": "synonym"
                },
                {
                    "name": "TTD2",
                    "type": "synonym"
                },
                {
                    "name": "XPBC",
                    "type": "synonym"
                },
                {
                    "name": "XPB",
                    "type": "synonym"
                }
            ],
            "record_id": "P19447-1",
            "evidence": [
                {
                    "id": "610651",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610651"
                },
                {
                    "id": "0110850",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110850"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00578-1",
            "uniprot_ac": "Q00578",
            "uniprot_id": "RAD25_YEAST",
            "refseq_ac": "NP_012123",
            "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/translocase subunit XPB/SSL2",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase/translocase XPB/SSL2",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair helicase RAD25/SSL2",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase II transcription factor B subunit SSL2",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of stem-loop mutation 2",
                    "type": "synonym"
                },
                {
                    "name": "TFB subunit SSL2",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH subunit XPB/SSL2",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH/NER complex ATPase/helicase subunit SSL2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SSL2",
                    "type": "recommended"
                },
                {
                    "name": "LOM3",
                    "type": "synonym"
                },
                {
                    "name": "RAD25",
                    "type": "synonym"
                },
                {
                    "name": "SSL2",
                    "type": "synonym"
                },
                {
                    "name": "UVS112",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00578-1",
            "evidence": [
                {
                    "id": "0110850",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110850"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4G005-1",
            "uniprot_ac": "Q4G005",
            "uniprot_id": "ERCC3_RAT",
            "refseq_ac": "NP_001026814",
            "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/translocase subunit XPB",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase/translocase XPB",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-3",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH basal transcription factor complex helicase XPB subunit",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH subunit XPB",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementation group 3",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementing rodent repair deficiency, complementation group 3",
                    "type": "synonym"
                },
                {
                    "name": "general transcription and DNA repair factor IIH helicase subunit XPB",
                    "type": "synonym"
                },
                {
                    "name": "general transcription and DNA repair factor IIH helicase/translocase subunit XPB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ercc3",
                    "type": "recommended"
                },
                {
                    "name": "Ercc3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4G005-1",
            "evidence": [
                {
                    "id": "0110850",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110850"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P34980-1",
            "uniprot_ac": "P34980",
            "uniprot_id": "PE2R3_RAT",
            "refseq_ac": "NP_036836",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prostaglandin E2 receptor EP3 subtype",
                    "type": "recommended"
                },
                {
                    "name": "PGE receptor EP3 subtype",
                    "type": "synonym"
                },
                {
                    "name": "PGE receptor, EP3 subtype",
                    "type": "synonym"
                },
                {
                    "name": "PGE2 receptor EP3 subtype",
                    "type": "synonym"
                },
                {
                    "name": "Prostanoid EP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "prostaglandin E receptor 3 (subtype EP3)",
                    "type": "synonym"
                },
                {
                    "name": "prostaglandin E2 receptor EP3 subtype isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "prostaglandin E2 receptor EP3 subtype",
                    "type": "synonym"
                },
                {
                    "name": "prostanoid EP3 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptger3",
                    "type": "recommended"
                },
                {
                    "name": "EP3R",
                    "type": "synonym"
                },
                {
                    "name": "EP3",
                    "type": "synonym"
                },
                {
                    "name": "Ptger3",
                    "type": "synonym"
                },
                {
                    "name": "Rep3",
                    "type": "synonym"
                },
                {
                    "name": "rEP3a",
                    "type": "synonym"
                },
                {
                    "name": "rEP3b",
                    "type": "synonym"
                }
            ],
            "record_id": "P34980-1",
            "evidence": [
                {
                    "id": "0110850",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110850"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02870-1",
            "uniprot_ac": "Q02870",
            "uniprot_id": "ERCC3_DROME",
            "refseq_ac": "NP_001137931",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "General transcription and DNA repair factor IIH helicase/translocase subunit XPB",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent DNA helicase hay",
                    "type": "synonym"
                },
                {
                    "name": "CG8019-PB",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase/translocase XPB",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein haywire",
                    "type": "synonym"
                },
                {
                    "name": "ERCC-3 homolog protein",
                    "type": "synonym"
                },
                {
                    "name": "ERCC3Dm",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH subunit XPB",
                    "type": "synonym"
                },
                {
                    "name": "hay-PB",
                    "type": "synonym"
                },
                {
                    "name": "haywire, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "haywire",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hay",
                    "type": "recommended"
                },
                {
                    "name": "CG8019",
                    "type": "synonym"
                },
                {
                    "name": "DhR25",
                    "type": "synonym"
                },
                {
                    "name": "DhXPB",
                    "type": "synonym"
                },
                {
                    "name": "DmXPB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8019",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8019",
                    "type": "synonym"
                },
                {
                    "name": "ERCC3",
                    "type": "synonym"
                },
                {
                    "name": "Hay",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH",
                    "type": "synonym"
                },
                {
                    "name": "XPB",
                    "type": "synonym"
                },
                {
                    "name": "Xpb/hay",
                    "type": "synonym"
                },
                {
                    "name": "Xpb",
                    "type": "synonym"
                },
                {
                    "name": "hay",
                    "type": "synonym"
                },
                {
                    "name": "hwr",
                    "type": "synonym"
                },
                {
                    "name": "i50",
                    "type": "synonym"
                },
                {
                    "name": "ms(3)nc2",
                    "type": "synonym"
                },
                {
                    "name": "nc2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02870-1",
            "evidence": [
                {
                    "id": "0110850",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110850"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110850"
}