{
    "disease_id": "DOID:0111871",
    "recommended_name": {
        "id": "DOID:0111871",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111871",
        "name": "photosensitive trichothiodystrophy 3",
        "description": "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111871",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111871",
            "name": "TTD3",
            "description": ""
        },
        {
            "id": "DOID:0111871",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111871",
            "name": "trichothiodystrophy complementation group A",
            "description": ""
        },
        {
            "id": "MONDO:0014619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014619",
            "name": "trichothiodystrophy 3, photosensitive",
            "description": ""
        },
        {
            "id": "MONDO:0014619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014619",
            "name": "trichothiodystrophy 3, photosensitive",
            "description": ""
        },
        {
            "id": "MONDO:0014619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014619",
            "name": "TTD3",
            "description": ""
        },
        {
            "id": "MIM:616395",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616395",
            "name": "Trichothiodystrophy 3, photosensitive",
            "description": "Trichothiodystrophy 3, photosensitive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111871"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111871",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111871",
            "categories": []
        },
        {
            "id": "MONDO:0014619",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014619",
            "categories": []
        },
        {
            "id": "MIM:616395",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616395",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5SNQ6-1",
            "uniprot_ac": "Q5SNQ6",
            "uniprot_id": "Q5SNQ6_DANRE",
            "refseq_ac": "NP_001127834",
            "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 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"
                }
            ],
            "record_id": "Q5SNQ6-1",
            "evidence": [
                {
                    "id": "0111871",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111871"
                }
            ]
        },
        {
            "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": "0111871",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111871"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZYL4-1",
            "uniprot_ac": "Q6ZYL4",
            "uniprot_id": "TF2H5_HUMAN",
            "refseq_ac": "NP_997001",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "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 basal transcription factor complex TTDA subunit",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH subunit p8",
                    "type": "synonym"
                },
                {
                    "name": "general transcription factor IIH subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "general transcription factor IIH, polypeptide 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GTF2H5",
                    "type": "recommended"
                },
                {
                    "name": "C6orf175",
                    "type": "synonym"
                },
                {
                    "name": "GTF2H5",
                    "type": "synonym"
                },
                {
                    "name": "TFB5",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH",
                    "type": "synonym"
                },
                {
                    "name": "TGF2H5",
                    "type": "synonym"
                },
                {
                    "name": "TTD-A",
                    "type": "synonym"
                },
                {
                    "name": "TTD3",
                    "type": "synonym"
                },
                {
                    "name": "TTDA",
                    "type": "synonym"
                },
                {
                    "name": "TTD",
                    "type": "synonym"
                },
                {
                    "name": "bA120J8.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZYL4-1",
            "evidence": [
                {
                    "id": "616395",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616395"
                },
                {
                    "id": "0111871",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111871"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3E7C1-1",
            "uniprot_ac": "Q3E7C1",
            "uniprot_id": "TFB5_YEAST",
            "refseq_ac": "NP_076886",
            "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 subunit TFB5",
                    "type": "recommended"
                },
                {
                    "name": "RNA polymerase II transcription factor B subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH complex subunit TFB5",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH subunit TFB5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TFB5",
                    "type": "recommended"
                },
                {
                    "name": "TFB5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3E7C1-1",
            "evidence": [
                {
                    "id": "0111871",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111871"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZEI7-1",
            "uniprot_ac": "D3ZEI7",
            "uniprot_id": "D3ZEI7_RAT",
            "refseq_ac": "NP_001119560",
            "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 subunit TFB5",
                    "type": "recommended"
                },
                {
                    "name": "general transcription factor IIH subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "general transcription factor IIH, polypeptide 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gtf2h5",
                    "type": "recommended"
                },
                {
                    "name": "Gtf2h5",
                    "type": "synonym"
                },
                {
                    "name": "RGD1560991",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZEI7-1",
            "evidence": [
                {
                    "id": "0111871",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111871"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K606-1",
            "uniprot_ac": "A0A0G2K606",
            "uniprot_id": "A0A0G2K606_RAT",
            "refseq_ac": "XP_038969029",
            "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 subunit TFB5",
                    "type": "recommended"
                },
                {
                    "name": "general transcription factor IIH subunit 5-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LOC120103497",
                    "type": "recommended"
                },
                {
                    "name": "LOC120103497",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K606-1",
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                {
                    "id": "0111871",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111871"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7Z018-1",
            "uniprot_ac": "B7Z018",
            "uniprot_id": "B7Z018_DROME",
            "refseq_ac": "NP_001137791",
            "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 subunit TFB5",
                    "type": "recommended"
                },
                {
                    "name": "CG42373-PB",
                    "type": "synonym"
                },
                {
                    "name": "CPuORF of FBgn0031668",
                    "type": "synonym"
                },
                {
                    "name": "TFB5 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Tfb5-PB",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor B5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tfb5",
                    "type": "recommended"
                },
                {
                    "name": "CG14037",
                    "type": "synonym"
                },
                {
                    "name": "CG42373",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42373",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42373",
                    "type": "synonym"
                },
                {
                    "name": "Dmp8",
                    "type": "synonym"
                },
                {
                    "name": "Dromel_CG31917_FBtr0079037_uORF",
                    "type": "synonym"
                },
                {
                    "name": "TFB5 (uORF)",
                    "type": "synonym"
                },
                {
                    "name": "TFB5",
                    "type": "synonym"
                },
                {
                    "name": "TTDA",
                    "type": "synonym"
                },
                {
                    "name": "Tfb5",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH1279",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH2 1279",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.843",
                    "type": "synonym"
                },
                {
                    "name": "p8",
                    "type": "synonym"
                },
                {
                    "name": "uORF",
                    "type": "synonym"
                }
            ],
            "record_id": "B7Z018-1",
            "evidence": [
                {
                    "id": "0111871",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111871"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111871"
}