{
    "disease_id": "DOID:0090039",
    "recommended_name": {
        "id": "DOID:0090039",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090039",
        "name": "torsion dystonia 6",
        "description": "A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11."
    },
    "synonyms": [
        {
            "id": "MONDO:0011264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011264",
            "name": "torsion dystonia 6",
            "description": "Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases."
        },
        {
            "id": "MONDO:0011264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011264",
            "name": "DYT-THAP1",
            "description": ""
        },
        {
            "id": "MONDO:0011264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011264",
            "name": "DYT6",
            "description": ""
        },
        {
            "id": "MONDO:0011264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011264",
            "name": "THAP1 generalised isolated dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0011264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011264",
            "name": "THAP1 generalized isolated dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0011264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011264",
            "name": "generalised cervical and upper-limb-onset dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0011264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011264",
            "name": "generalised isolated dystonia caused by mutation in THAP1",
            "description": ""
        },
        {
            "id": "MONDO:0011264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011264",
            "name": "generalized cervical and upper-limb-onset dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0011264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011264",
            "name": "generalized isolated dystonia caused by mutation in THAP1",
            "description": ""
        },
        {
            "id": "MONDO:0011264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011264",
            "name": "idiopathic torsion dystonia of mixed type",
            "description": ""
        },
        {
            "id": "MONDO:0011264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011264",
            "name": "torsion dystonia type 6",
            "description": ""
        },
        {
            "id": "MONDO:0011264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011264",
            "name": "adolescent-onset dystonia of mixed type",
            "description": ""
        },
        {
            "id": "MONDO:0011264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011264",
            "name": "dystonia 6",
            "description": ""
        },
        {
            "id": "MONDO:0011264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011264",
            "name": "dystonia 6, torsion",
            "description": ""
        },
        {
            "id": "MONDO:0011264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011264",
            "name": "torsion dystonia adult onset mixed type",
            "description": ""
        },
        {
            "id": "MIM:602629",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602629",
            "name": "Dystonia 6, torsion",
            "description": "Dystonia 6, torsion"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090039"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090039",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090039",
            "categories": []
        },
        {
            "id": "MONDO:0011264",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011264",
            "categories": []
        },
        {
            "id": "MIM:602629",
            "database": "MIM",
            "url": "https://www.omim.org/entry/602629",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1JPT7-1",
            "uniprot_ac": "Q1JPT7",
            "uniprot_id": "THAP1_DANRE",
            "refseq_ac": "NP_001410789",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "THAP domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "THAP domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "thap1",
                    "type": "recommended"
                },
                {
                    "name": "thap1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136597",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1JPT7-1",
            "evidence": [
                {
                    "id": "0090039",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090039"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CHW1-1",
            "uniprot_ac": "Q8CHW1",
            "uniprot_id": "THAP1_MOUSE",
            "refseq_ac": "NP_950243",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "THAP domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "THAP domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thap1",
                    "type": "recommended"
                },
                {
                    "name": "4833431A01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Thap1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CHW1-1",
            "evidence": [
                {
                    "id": "0090039",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090039"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NVV9-1",
            "uniprot_ac": "Q9NVV9",
            "uniprot_id": "THAP1_HUMAN",
            "refseq_ac": "NP_060575",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "THAP domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "4833431A01Rik",
                    "type": "synonym"
                },
                {
                    "name": "THAP domain containing, apoptosis associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "THAP domain protein 1",
                    "type": "synonym"
                },
                {
                    "name": "THAP domain-containing protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "THAP domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear proapoptotic factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "THAP1",
                    "type": "recommended"
                },
                {
                    "name": "DYT6",
                    "type": "synonym"
                },
                {
                    "name": "THAP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NVV9-1",
            "evidence": [
                {
                    "id": "602629",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602629"
                },
                {
                    "id": "0090039",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090039"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U208-1",
            "uniprot_ac": "Q5U208",
            "uniprot_id": "THAP1_RAT",
            "refseq_ac": "NP_001008341",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "THAP domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "THAP domain-containing apoptosis-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "THAP domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thap1",
                    "type": "recommended"
                },
                {
                    "name": "Thap1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U208-1",
            "evidence": [
                {
                    "id": "0090039",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090039"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PF64-1",
            "uniprot_ac": "M9PF64",
            "uniprot_id": "M9PF64_DROME",
            "refseq_ac": "NP_001261721",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "THAP-type domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG14135-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG14135",
                    "type": "recommended"
                },
                {
                    "name": "CG14135",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14135",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14135",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PF64-1",
            "evidence": [
                {
                    "id": "0090039",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090039"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090039"
}