{
    "disease_id": "DOID:0090050", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014627", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014627", 
            "name": "dystonia type 27"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014627", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014627", 
            "name": "DYT27"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014627", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014627", 
            "name": "COL6A3 dystonic disorder"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014627", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014627", 
            "name": "dystonia 27; DYT27"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014627", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014627", 
            "name": "primary dystonia, DYT27 type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014627", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014627", 
            "name": "dystonic disorder caused by mutation in COL6A3"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090050", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090050", 
        "name": "dystonia 27"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0090050#disease-associations", 
            "id": "0090050", 
            "database": "Alliance of Genome Resources"
        }
    ]
}