{
    "disease_id": "DOID:0050967",
    "recommended_name": {
        "id": "DOID:0050967",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050967",
        "name": "spinocerebellar ataxia 17",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "spinocerebellar ataxia type 17",
            "description": "A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy."
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "CPD2",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "HDL4",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "Huntington disease-like 4",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "OPCA V",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "OPCA with dementia and extrapyramidal signs",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "SCA 17",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "SCA17",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "cerebelloparenchymal disorder II",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "olivopontocerebellar atrophy 5",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "olivopontocerebellar atrophy type 5",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "spinocerebellar ataxia 17",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "spinocerebellar ataxia type 17",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "spinocerebellar ataxia type 17",
            "description": "A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy."
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "CPD2",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "HDL4",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "Huntington disease-like 4",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "OPCA V",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "OPCA with dementia and extrapyramidal signs",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "SCA 17",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "SCA17",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "cerebelloparenchymal disorder II",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "olivopontocerebellar atrophy 5",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "olivopontocerebellar atrophy type 5",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "spinocerebellar ataxia 17",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "spinocerebellar ataxia type 17",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "spinocerebellar ataxia type 17",
            "description": "A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy."
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "CPD2",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "HDL4",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "Huntington disease-like 4",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "OPCA V",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "OPCA with dementia and extrapyramidal signs",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "SCA 17",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "SCA17",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "cerebelloparenchymal disorder II",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "olivopontocerebellar atrophy 5",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "olivopontocerebellar atrophy type 5",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "spinocerebellar ataxia 17",
            "description": ""
        },
        {
            "id": "MONDO:0011781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "name": "spinocerebellar ataxia type 17",
            "description": ""
        },
        {
            "id": "MIM:607136",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607136",
            "name": "Spinocerebellar ataxia 17",
            "description": "Spinocerebellar ataxia 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050967"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050967",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050967",
            "categories": []
        },
        {
            "id": "MONDO:0011781",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011781",
            "categories": []
        },
        {
            "id": "MIM:607136",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607136",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7SXL3-1",
            "uniprot_ac": "Q7SXL3",
            "uniprot_id": "TBP_DANRE",
            "refseq_ac": "NP_956390",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "TATA-box-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "TATA sequence-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TATA-binding factor",
                    "type": "synonym"
                },
                {
                    "name": "TATA-box factor",
                    "type": "synonym"
                },
                {
                    "name": "TATA-box-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIID TBP subunit",
                    "type": "synonym"
                },
                {
                    "name": "zTBP",
                    "type": "synonym"
                },
                {
                    "name": "zfTBF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tbp",
                    "type": "recommended"
                },
                {
                    "name": "fd20h06",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-202m22.5",
                    "type": "synonym"
                },
                {
                    "name": "si:zc101n13.2",
                    "type": "synonym"
                },
                {
                    "name": "tbp",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd20h06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66213",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SXL3-1",
            "evidence": [
                {
                    "id": "0050967",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050967"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29037-1",
            "uniprot_ac": "P29037",
            "uniprot_id": "TBP_MOUSE",
            "refseq_ac": "NP_038712",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "TATA-box-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "TATA sequence-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TATA-binding factor",
                    "type": "synonym"
                },
                {
                    "name": "TATA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TATA-box factor",
                    "type": "synonym"
                },
                {
                    "name": "TATA-box-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TFIID core protein",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIID TBP subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID TBP subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbp",
                    "type": "recommended"
                },
                {
                    "name": "GTF2D1",
                    "type": "synonym"
                },
                {
                    "name": "Gtf2d",
                    "type": "synonym"
                },
                {
                    "name": "SCA17",
                    "type": "synonym"
                },
                {
                    "name": "TFIID",
                    "type": "synonym"
                },
                {
                    "name": "Tbp",
                    "type": "synonym"
                },
                {
                    "name": "Tfiid",
                    "type": "synonym"
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            ],
            "record_id": "P29037-1",
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                    "id": "0050967",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050967"
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            ]
        },
        {
            "uniprot_canonical_ac": "P20226-1",
            "uniprot_ac": "P20226",
            "uniprot_id": "TBP_HUMAN",
            "refseq_ac": "NP_001165556",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "TATA-box-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "TATA sequence-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TATA-binding factor",
                    "type": "synonym"
                },
                {
                    "name": "TATA-box binding protein N-terminal domain",
                    "type": "synonym"
                },
                {
                    "name": "TATA-box factor",
                    "type": "synonym"
                },
                {
                    "name": "TATA-box-binding protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIID TBP subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID TBP subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TBP",
                    "type": "recommended"
                },
                {
                    "name": "GTF2D1",
                    "type": "synonym"
                },
                {
                    "name": "GTF2D",
                    "type": "synonym"
                },
                {
                    "name": "HDL4",
                    "type": "synonym"
                },
                {
                    "name": "SCA17",
                    "type": "synonym"
                },
                {
                    "name": "TBP1",
                    "type": "synonym"
                },
                {
                    "name": "TBP",
                    "type": "synonym"
                },
                {
                    "name": "TF2D",
                    "type": "synonym"
                },
                {
                    "name": "TFIID",
                    "type": "synonym"
                }
            ],
            "record_id": "P20226-1",
            "evidence": [
                {
                    "id": "607136",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607136"
                },
                {
                    "id": "0050967",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050967"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13393-1",
            "uniprot_ac": "P13393",
            "uniprot_id": "TBP_YEAST",
            "refseq_ac": "NP_011075",
            "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": "TATA-box-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "TATA sequence-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TATA-binding factor",
                    "type": "synonym"
                },
                {
                    "name": "TATA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TATA-box factor",
                    "type": "synonym"
                },
                {
                    "name": "TBP",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor D",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIID TBP subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPT15",
                    "type": "recommended"
                },
                {
                    "name": "BTF1",
                    "type": "synonym"
                },
                {
                    "name": "SPT15",
                    "type": "synonym"
                },
                {
                    "name": "TBP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P13393-1",
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                {
                    "id": "0050967",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050967"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66HB1-1",
            "uniprot_ac": "Q66HB1",
            "uniprot_id": "Q66HB1_RAT",
            "refseq_ac": "NP_001004198",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "TATA box binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TATA-box-binding protein isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbp",
                    "type": "recommended"
                },
                {
                    "name": "TFIID",
                    "type": "synonym"
                },
                {
                    "name": "Tbp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66HB1-1",
            "evidence": [
                {
                    "id": "0050967",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050967"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20227-1",
            "uniprot_ac": "P20227",
            "uniprot_id": "TBP_DROME",
            "refseq_ac": "NP_523805",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "TATA-box-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "42kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "CG9874-PA",
                    "type": "synonym"
                },
                {
                    "name": "TATA binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TATA box binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TATA box-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TATA sequence-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TATA-binding factor",
                    "type": "synonym"
                },
                {
                    "name": "TATA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TATA-box binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TATA-box factor",
                    "type": "synonym"
                },
                {
                    "name": "Tbp-PA",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIID TBP subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbp",
                    "type": "recommended"
                },
                {
                    "name": "BTF1",
                    "type": "synonym"
                },
                {
                    "name": "CG9874",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9874",
                    "type": "synonym"
                },
                {
                    "name": "RBP",
                    "type": "synonym"
                },
                {
                    "name": "TBP38",
                    "type": "synonym"
                },
                {
                    "name": "TBP",
                    "type": "synonym"
                },
                {
                    "name": "TFIIDtau",
                    "type": "synonym"
                },
                {
                    "name": "TFIID",
                    "type": "synonym"
                },
                {
                    "name": "Tbp",
                    "type": "synonym"
                },
                {
                    "name": "TfIID",
                    "type": "synonym"
                },
                {
                    "name": "dTBP",
                    "type": "synonym"
                },
                {
                    "name": "dTFIID",
                    "type": "synonym"
                },
                {
                    "name": "dTbp",
                    "type": "synonym"
                },
                {
                    "name": "dtbp",
                    "type": "synonym"
                },
                {
                    "name": "tbp",
                    "type": "synonym"
                }
            ],
            "record_id": "P20227-1",
            "evidence": [
                {
                    "id": "0050967",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050967"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050967"
}