{
    "disease_id": "DOID:0111872",
    "recommended_name": {
        "id": "DOID:0111872",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111872",
        "name": "nonphotosensitive trichothiodystrophy 6",
        "description": "A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12."
    },
    "synonyms": [
        {
            "id": "DOID:0111872",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111872",
            "name": "TTD6",
            "description": ""
        },
        {
            "id": "MONDO:0014841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014841",
            "name": "trichothiodystrophy 6, nonphotosensitive",
            "description": "Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene."
        },
        {
            "id": "MONDO:0014841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014841",
            "name": "GTF2E2 nonphotosensitive trichothiodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014841",
            "name": "TTD6",
            "description": ""
        },
        {
            "id": "MONDO:0014841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014841",
            "name": "nonphotosensitive trichothiodystrophy caused by mutation in GTF2E2",
            "description": ""
        },
        {
            "id": "MONDO:0014841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014841",
            "name": "trichothiodystrophy 6, nonphotosensitive",
            "description": ""
        },
        {
            "id": "MONDO:0014841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014841",
            "name": "trichothiodystrophy 6, nonphotosensitive; TTD6",
            "description": ""
        },
        {
            "id": "MIM:616943",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616943",
            "name": "Trichothiodystrophy 6, non-photosensitive",
            "description": "Trichothiodystrophy 6, non-photosensitive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111872"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111872",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111872",
            "categories": []
        },
        {
            "id": "MONDO:0014841",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014841",
            "categories": []
        },
        {
            "id": "MIM:616943",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616943",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D902-1",
            "uniprot_ac": "Q9D902",
            "uniprot_id": "T2EB_MOUSE",
            "refseq_ac": "NP_001161393",
            "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 IIE subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "TFIIE-beta",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor IIE subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "general transcription factor II E, polypeptide 2 (beta subunit, 34kD)",
                    "type": "synonym"
                },
                {
                    "name": "general transcription factor IIE subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor IIE subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gtf2e2",
                    "type": "recommended"
                },
                {
                    "name": "34kDa",
                    "type": "synonym"
                },
                {
                    "name": "C330006J08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gtf2e2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D902-1",
            "evidence": [
                {
                    "id": "0111872",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111872"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29084-1",
            "uniprot_ac": "P29084",
            "uniprot_id": "T2EB_HUMAN",
            "refseq_ac": "NP_002086",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription initiation factor IIE subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "General transcription factor IIE subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "TFIIE beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "TFIIE-beta",
                    "type": "synonym"
                },
                {
                    "name": "general transcription factor IIE, polypeptide 2, beta 34kDa",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor IIE subunit beta isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor IIE subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GTF2E2",
                    "type": "recommended"
                },
                {
                    "name": "FE",
                    "type": "synonym"
                },
                {
                    "name": "GTF2E2",
                    "type": "synonym"
                },
                {
                    "name": "TF2E2",
                    "type": "synonym"
                },
                {
                    "name": "TFIIE-B",
                    "type": "synonym"
                },
                {
                    "name": "TTD6",
                    "type": "synonym"
                }
            ],
            "record_id": "P29084-1",
            "evidence": [
                {
                    "id": "616943",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616943"
                },
                {
                    "id": "0111872",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111872"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36145-1",
            "uniprot_ac": "P36145",
            "uniprot_id": "T2EB_YEAST",
            "refseq_ac": "NP_012988",
            "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": "Transcription initiation factor IIE subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "Factor A 43 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "TFIIE-beta",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor A small subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor TFIIE subunit TFA2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TFA2",
                    "type": "recommended"
                },
                {
                    "name": "TFA2",
                    "type": "synonym"
                }
            ],
            "record_id": "P36145-1",
            "evidence": [
                {
                    "id": "0111872",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111872"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZCP9-1",
            "uniprot_ac": "D3ZCP9",
            "uniprot_id": "D3ZCP9_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": "Transcription initiation factor IIE subunit beta",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Gtf2e2",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZCP9-1",
            "evidence": [
                {
                    "id": "0111872",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111872"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O96881-1",
            "uniprot_ac": "O96881",
            "uniprot_id": "O96881_DROME",
            "refseq_ac": "NP_523923",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription initiation factor IIE subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "CG1276-PA",
                    "type": "synonym"
                },
                {
                    "name": "TFIIE small subunit",
                    "type": "synonym"
                },
                {
                    "name": "TfIIEbeta-PA",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor IIEbeta, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TfIIEbeta",
                    "type": "recommended"
                },
                {
                    "name": "CG1276",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1276",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1276",
                    "type": "synonym"
                },
                {
                    "name": "E[[S]]",
                    "type": "synonym"
                },
                {
                    "name": "TFIIEbeta",
                    "type": "synonym"
                },
                {
                    "name": "TFIIE",
                    "type": "synonym"
                },
                {
                    "name": "TFIIbeta",
                    "type": "synonym"
                },
                {
                    "name": "TfIIE-beta",
                    "type": "synonym"
                },
                {
                    "name": "TfIIEbeta",
                    "type": "synonym"
                },
                {
                    "name": "TfIIE",
                    "type": "synonym"
                },
                {
                    "name": "dTFIIE-S",
                    "type": "synonym"
                },
                {
                    "name": "dTFIIES",
                    "type": "synonym"
                }
            ],
            "record_id": "O96881-1",
            "evidence": [
                {
                    "id": "0111872",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111872"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111872"
}