{
    "disease_id": "DOID:0090050",
    "recommended_name": {
        "id": "DOID:0090050",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090050",
        "name": "dystonia 27",
        "description": "A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37."
    },
    "synonyms": [
        {
            "id": "MONDO:0014627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014627",
            "name": "dystonia 27",
            "description": "Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene."
        },
        {
            "id": "MONDO:0014627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014627",
            "name": "dystonia type 27",
            "description": ""
        },
        {
            "id": "MONDO:0014627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014627",
            "name": "DYT27",
            "description": ""
        },
        {
            "id": "MONDO:0014627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014627",
            "name": "COL6A3 dystonic disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014627",
            "name": "dystonia 27; DYT27",
            "description": ""
        },
        {
            "id": "MONDO:0014627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014627",
            "name": "dystonia 27",
            "description": ""
        },
        {
            "id": "MONDO:0014627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014627",
            "name": "primary dystonia, DYT27 type",
            "description": ""
        },
        {
            "id": "MONDO:0014627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014627",
            "name": "dystonic disorder caused by mutation in COL6A3",
            "description": ""
        },
        {
            "id": "MIM:616411",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616411",
            "name": "Dystonia 27",
            "description": "Dystonia 27"
        }
    ]
}