{
    "disease_id": "DOID:0111866",
    "recommended_name": {
        "id": "DOID:0111866",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111866",
        "name": "trichothiodystrophy",
        "description": "A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections."
    },
    "synonyms": [
        {
            "id": "DOID:0111866",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111866",
            "name": "TTD",
            "description": ""
        },
        {
            "id": "MONDO:0011125",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011125",
            "name": "trichothiodystrophy 1, photosensitive",
            "description": ""
        },
        {
            "id": "MONDO:0011125",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011125",
            "name": "PIBIDS syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011125",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011125",
            "name": "trichothiodystrophy 1, photosensitive",
            "description": ""
        },
        {
            "id": "MONDO:0011125",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011125",
            "name": "TTD1",
            "description": ""
        },
        {
            "id": "MIM:601675",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601675",
            "name": "Trichothiodystrophy 1, photosensitive",
            "description": "Trichothiodystrophy 1, photosensitive"
        }
    ],
    "children": [
        {
            "id": "DOID:0111867",
            "label": "nonphotosensitive trichothiodystrophy",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0050528",
                    "label": "nonphotosensitive trichothiodystrophy 4",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0061023",
                    "label": "nonphotosensitive trichothiodystrophy 8",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0061024",
                    "label": "nonphotosensitive trichothiodystrophy 9",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111868",
                    "label": "nonphotosensitive trichothiodystrophy 5",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111870",
                    "label": "nonphotosensitive trichothiodystrophy 7",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111872",
                    "label": "nonphotosensitive trichothiodystrophy 6",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:2960",
            "label": "photosensitive trichothiodystrophy",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0111869",
                    "label": "photosensitive trichothiodystrophy 2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111871",
                    "label": "photosensitive trichothiodystrophy 3",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111873",
                    "label": "photosensitive trichothiodystrophy 1",
                    "link_status": true,
                    "children": []
                }
            ]
        }
    ],
    "id_list": [
        "DOID:0061023",
        "DOID:0111872",
        "DOID:0111873",
        "DOID:0111868",
        "DOID:0111869",
        "DOID:2960",
        "DOID:0111866",
        "DOID:0111871",
        "DOID:0111867",
        "DOID:0050528",
        "DOID:0061024",
        "DOID:0111870"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111866",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111866",
            "categories": []
        },
        {
            "id": "MONDO:0011125",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011125",
            "categories": []
        },
        {
            "id": "MIM:601675",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601675",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "Q7ZVV1-1",
            "uniprot_ac": "Q7ZVV1",
            "uniprot_id": "ERCC3_DANRE",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "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": "0111866",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111866"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5SNQ6-1",
            "uniprot_ac": "Q5SNQ6",
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            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "General transcription and DNA repair factor IIH subunit TFB5",
                    "type": "recommended"
                },
                {
                    "name": "general transcription factor IIH subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "ttda",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gtf2h5",
                    "type": "recommended"
                },
                {
                    "name": "gtf2h5",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-12h9.4",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153434",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111866",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111866"
                }
            ]
        },
        {
            "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"
                }
            ],
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                {
                    "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",
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                {
                    "id": "0111866",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111866"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K2X8-1",
            "uniprot_ac": "Q8K2X8",
            "uniprot_id": "TF2H5_MOUSE",
            "refseq_ac": "NP_852057",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "General transcription factor IIH subunit 5",
                    "type": "recommended"
                },
                {
                    "name": "General transcription factor IIH polypeptide 5",
                    "type": "synonym"
                },
                {
                    "name": "TFB5 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH basal transcription factor complex TTD-A subunit",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH subunit p8",
                    "type": "synonym"
                },
                {
                    "name": "general transcription factor IIH subunit 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gtf2h5",
                    "type": "recommended"
                },
                {
                    "name": "2700017P07Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810432H05Rik",
                    "type": "synonym"
                },
                {
                    "name": "D17Wsu155e",
                    "type": "synonym"
                },
                {
                    "name": "Gtf2h5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K2X8-1",
            "evidence": [
                {
                    "id": "0111866",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111866"
                }
            ]
        },
        {
            "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]"
                }
            ],
            "protein_names": [
                {
                    "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"
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                {
                    "name": "TFIIH subunit XPD",
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                {
                    "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"
                }
            ],
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                {
                    "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"
                }
            ],
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                    "id": "601675",
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                }
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            "uniprot_canonical_ac": "Q00578-1",
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                    "name": "General transcription and DNA repair factor IIH helicase/translocase subunit XPB/SSL2",
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                },
                {
                    "name": "5.6.2.4",
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                {
                    "name": "DNA 3'-5' helicase/translocase XPB/SSL2",
                    "type": "synonym"
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                {
                    "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"
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                {
                    "name": "TFB subunit SSL2",
                    "type": "synonym"
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                {
                    "name": "TFIIH subunit XPB/SSL2",
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                {
                    "name": "TFIIH/NER complex ATPase/helicase subunit SSL2",
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                }
            ],
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                {
                    "name": "SSL2",
                    "type": "recommended"
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                    "name": "LOM3",
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                {
                    "name": "RAD25",
                    "type": "synonym"
                },
                {
                    "name": "SSL2",
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                {
                    "name": "UVS112",
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            ],
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                    "id": "0111866",
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                }
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                }
            ],
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                    "name": "General transcription and DNA repair factor IIH subunit TFB5",
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                {
                    "name": "RNA polymerase II transcription factor B subunit 5",
                    "type": "synonym"
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                {
                    "name": "TFIIH complex subunit TFB5",
                    "type": "synonym"
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                {
                    "name": "TFIIH subunit TFB5",
                    "type": "synonym"
                }
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                    "name": "TFB5",
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                    "name": "TFB5",
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                    "id": "0111866",
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                }
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            "uniprot_canonical_ac": "Q4G005-1",
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                    "name": "Rattus norvegicus",
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            ],
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                    "name": "General transcription and DNA repair factor IIH helicase/translocase subunit XPB",
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                    "name": "5.6.2.4",
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                },
                {
                    "name": "DNA 3'-5' helicase/translocase XPB",
                    "type": "synonym"
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                    "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"
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                {
                    "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"
                }
            ],
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                    "name": "Ercc3",
                    "type": "recommended"
                },
                {
                    "name": "Ercc3",
                    "type": "synonym"
                }
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                    "id": "0111866",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111866"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZEI7-1",
            "uniprot_ac": "D3ZEI7",
            "uniprot_id": "D3ZEI7_RAT",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "General transcription and DNA repair factor IIH subunit TFB5",
                    "type": "recommended"
                },
                {
                    "name": "general transcription factor IIH subunit 5",
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                },
                {
                    "name": "general transcription factor IIH, polypeptide 5",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Gtf2h5",
                    "type": "recommended"
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}