{
    "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": []
}
