{
    "disease_id": "DOID:0061137",
    "recommended_name": {
        "id": "DOID:0061137",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061137",
        "name": "spinocerebellar ataxia 27B",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties) and has_material_basis_in heterozygous GAA(n) trinucleotide repeat expansion in the FGF14 gene on chromosome 13q33."
    },
    "synonyms": [
        {
            "id": "DOID:0061137",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061137",
            "name": "SCA27B",
            "description": ""
        },
        {
            "id": "MONDO:0859340",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859340",
            "name": "spinocerebellar ataxia 27B, late-onset",
            "description": ""
        },
        {
            "id": "MIM:620174",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620174",
            "name": "Spinocerebellar ataxia 27B, late-onset",
            "description": "Spinocerebellar ataxia 27B, late-onset"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061137"
    ],
    "unlinked_id_list": []
}