{
    "disease_id": "DOID:0090057",
    "recommended_name": {
        "id": "DOID:0090057",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090057",
        "name": "X-linked dystonia-parkinsonism",
        "description": "A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1."
    },
    "synonyms": [
        {
            "id": "MONDO:0010747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010747",
            "name": "X-linked dystonia-parkinsonism",
            "description": "X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course."
        },
        {
            "id": "MONDO:0010747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010747",
            "name": "DYT-TAF1",
            "description": ""
        },
        {
            "id": "MONDO:0010747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010747",
            "name": "DYT3",
            "description": ""
        },
        {
            "id": "MONDO:0010747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010747",
            "name": "Lubag",
            "description": ""
        },
        {
            "id": "MONDO:0010747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010747",
            "name": "Lubag syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010747",
            "name": "X-linked dystonia Parkinsonism",
            "description": ""
        },
        {
            "id": "MONDO:0010747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010747",
            "name": "XDP",
            "description": ""
        },
        {
            "id": "MONDO:0010747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010747",
            "name": "dystonia-Parkinsonism, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010747",
            "name": "X-linked dystonia-Parkinsonism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010747",
            "name": "X-linked dystonia-parkinsonism/Lubag",
            "description": ""
        },
        {
            "id": "MONDO:0010747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010747",
            "name": "X-linked torsion dystonia-Parkinsonism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010747",
            "name": "dystonia 3, torsion, X-linked",
            "description": ""
        },
        {
            "id": "MIM:314250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/314250",
            "name": "Dystonia 3, torsion, X-linked",
            "description": "Dystonia 3, torsion, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090057"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090057",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090057",
            "categories": []
        },
        {
            "id": "MONDO:0010747",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010747",
            "categories": []
        },
        {
            "id": "MIM:314250",
            "database": "MIM",
            "url": "https://www.omim.org/entry/314250",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "A0A8M9Q3C1",
            "uniprot_id": "A0A8M9Q3C1_DANRE",
            "refseq_ac": "XP_021331844",
            "glycoprotein": "yes",
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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": "Transcription initiation factor TFIID subunit",
                    "type": "recommended"
                },
                {
                    "name": "transcription initiation factor TFIID subunit 1 isoform X1",
                    "type": "synonym"
                }
            ],
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                    "name": "taf1",
                    "type": "recommended"
                },
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                    "type": "synonym"
                },
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                    "name": "wu:fi04f03",
                    "type": "synonym"
                },
                {
                    "name": "wu:fy39f07",
                    "type": "synonym"
                }
            ],
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                }
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        },
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            "uniprot_ac": "Q80UV9",
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            "refseq_ac": "NP_001392888",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Transcription initiation factor TFIID subunit 1",
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                },
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                    "name": "2.7.11.1",
                    "type": "synonym"
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                    "name": "Cell cycle gene 1 protein",
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                    "name": "transcription initiation factor TFIID 250 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID subunit 1 isoform 2",
                    "type": "synonym"
                },
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                    "name": "transcription initiation factor TFIID subunit 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Taf1",
                    "type": "recommended"
                },
                {
                    "name": "B430306D02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ccg-1",
                    "type": "synonym"
                },
                {
                    "name": "Ccg1",
                    "type": "synonym"
                },
                {
                    "name": "KAT4",
                    "type": "synonym"
                },
                {
                    "name": "N-TAF1",
                    "type": "synonym"
                },
                {
                    "name": "TAFII250",
                    "type": "synonym"
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                {
                    "name": "Taf1",
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                },
                {
                    "name": "Taf2a",
                    "type": "synonym"
                },
                {
                    "name": "p250",
                    "type": "synonym"
                }
            ],
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                    "id": "0090057",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0090057"
                }
            ]
        },
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            "uniprot_canonical_ac": "P21675-2",
            "uniprot_ac": "P21675",
            "uniprot_id": "TAF1_HUMAN",
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            "glycoprotein": "yes",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
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                }
            ],
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                    "name": "Transcription initiation factor TFIID subunit 1",
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                    "name": "2.3.1.48",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
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                    "name": "Cell cycle gene 1 protein",
                    "type": "synonym"
                },
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                    "type": "synonym"
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                {
                    "name": "Transcription initiation factor TFIID 250 kDa subunit",
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                {
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                    "type": "synonym"
                },
                {
                    "name": "cell cycle, G1 phase defect",
                    "type": "synonym"
                },
                {
                    "name": "complementation of cell cycle block, G1-to-S",
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                },
                {
                    "name": "p250",
                    "type": "synonym"
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                {
                    "name": "transcription factor TFIID p250 polypeptide",
                    "type": "synonym"
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                {
                    "name": "transcription initiation factor TFIID subunit 1 isoform 2",
                    "type": "synonym"
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                {
                    "name": "transcription initiation factor TFIID subunit 1",
                    "type": "synonym"
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                    "name": "TAF1",
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                    "name": "BA2R",
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                },
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                },
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                    "name": "CCGS",
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                },
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                    "name": "MRXS33",
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                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "NSCL2",
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                },
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                    "name": "OF",
                    "type": "synonym"
                },
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                    "name": "P250",
                    "type": "synonym"
                },
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                    "name": "TAF(II)250",
                    "type": "synonym"
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                {
                    "name": "TAF1",
                    "type": "synonym"
                },
                {
                    "name": "TAF2A",
                    "type": "synonym"
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                    "name": "TAFII-250",
                    "type": "synonym"
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                {
                    "name": "TAFII250",
                    "type": "synonym"
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                {
                    "name": "XDP",
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                    "taxid": 559292,
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
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            ],
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                    "name": "Transcription initiation factor TFIID subunit",
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                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Transcription initiation factor TFIID subunit 1",
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                    "name": "Transcription initiation factor TFIID 230 kDa subunit",
                    "type": "synonym"
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                    "name": "cell lethal",
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                    "name": "Taf1",
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                    "name": "BG:DS00004.13",
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                    "name": "SR3-5",
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                    "name": "TFIID",
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                    "name": "Taf[[II]]250",
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                    "name": "cel",
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                    "name": "d230",
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                    "name": "dTAF230",
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                    "name": "dTAFII250",
                    "type": "synonym"
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                {
                    "name": "dTAF[[II]]230",
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                {
                    "name": "dTAF[[II]]250",
                    "type": "synonym"
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                    "name": "dmTAF1",
                    "type": "synonym"
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                {
                    "name": "dmTAF[[II]]230",
                    "type": "synonym"
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                {
                    "name": "l(3)84Ab",
                    "type": "synonym"
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                    "name": "p230",
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                    "name": "taf1",
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                    "id": "0090057",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0090057"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090057"
}