{
    "disease_id": "DOID:0050977",
    "recommended_name": {
        "id": "DOID:0050977",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050977",
        "name": "spinocerebellar ataxia 28",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0012450",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012450",
            "name": "spinocerebellar ataxia type 28",
            "description": "Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration."
        },
        {
            "id": "MONDO:0012450",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012450",
            "name": "SCA28",
            "description": ""
        },
        {
            "id": "MONDO:0012450",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012450",
            "name": "spinocerebellar ataxia type 28",
            "description": ""
        },
        {
            "id": "MONDO:0012450",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012450",
            "name": "spinocerebellar ataxia 28",
            "description": ""
        },
        {
            "id": "MIM:610246",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610246",
            "name": "Spinocerebellar ataxia 28",
            "description": "Spinocerebellar ataxia 28"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050977"
    ],
    "unlinked_id_list": []
}