{
    "disease_id": "DOID:0050976",
    "recommended_name": {
        "id": "DOID:0050976",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050976",
        "name": "spinocerebellar ataxia type 27",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, and has_material_basis_in mutation in the FGF14 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0012247",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012247",
            "name": "spinocerebellar ataxia type 27",
            "description": "Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia."
        },
        {
            "id": "MONDO:0012247",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012247",
            "name": "spinocerebellar ataxia 27; SCA27",
            "description": ""
        },
        {
            "id": "MONDO:0012247",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012247",
            "name": "cerebellar ataxia autosomal dominant FGF14-related",
            "description": ""
        },
        {
            "id": "MONDO:0012247",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012247",
            "name": "SCA27",
            "description": ""
        },
        {
            "id": "MONDO:0012247",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012247",
            "name": "spinocerebellar ataxia 27",
            "description": ""
        },
        {
            "id": "MONDO:0012247",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012247",
            "name": "cerebellar ataxia, autosomal dominant, Fgf14-related",
            "description": ""
        },
        {
            "id": "MONDO:0012247",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012247",
            "name": "spinocerebellar ataxia type 27",
            "description": ""
        },
        {
            "id": "MIM:609307",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609307",
            "name": "Spinocerebellar ataxia 27",
            "description": "Spinocerebellar ataxia 27"
        }
    ]
}