{
    "disease_id": "DOID:0050957",
    "recommended_name": {
        "id": "DOID:0050957",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050957",
        "name": "spinocerebellar ataxia 4",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy that has_material_basis_in heterozygous trinucleotide repeat expansion (GGCn) in the ZFHX3 gene on chromosome 16q22."
    },
    "synonyms": [
        {
            "id": "DOID:0050957",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050957",
            "name": "SCA4",
            "description": ""
        },
        {
            "id": "MONDO:0010847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010847",
            "name": "spinocerebellar ataxia type 4",
            "description": "Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy."
        },
        {
            "id": "MONDO:0010847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010847",
            "name": "SCA4",
            "description": ""
        },
        {
            "id": "MONDO:0010847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010847",
            "name": "spinocerebellar ataxia 4",
            "description": ""
        },
        {
            "id": "MONDO:0010847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010847",
            "name": "spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy",
            "description": ""
        },
        {
            "id": "MIM:600223",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600223",
            "name": "Spinocerebellar ataxia 4",
            "description": "Spinocerebellar ataxia 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050957"
    ],
    "unlinked_id_list": []
}