{
    "disease_id": "DOID:0050954", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008119", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008119", 
            "name": "ATXN1 autosomal dominant cerebellar ataxia type I"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008119", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008119", 
            "name": "OPCA4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008119", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008119", 
            "name": "cerebelloparenchymal disorder 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008119", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008119", 
            "name": "spinocerebellar atrophy 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008119", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008119", 
            "name": "spinocerebellar ataxia 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008119", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008119", 
            "name": "OPCA1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008119", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008119", 
            "name": "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008119", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008119", 
            "name": "OPCA 4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008119", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008119", 
            "name": "olivopontocerebellar atrophy 4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008119", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008119", 
            "name": "spinocerebellar ataxia 1; Sca1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008119", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008119", 
            "name": "OPCA 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008119", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008119", 
            "name": "Menzel type OPCA"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008119", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008119", 
            "name": "olivopontocerebellar atrophy 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008119", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008119", 
            "name": "Schut-haymaker type OPCA"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008119", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008119", 
            "name": "Sca1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050954", 
        "description": "An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050954", 
        "name": "spinocerebellar ataxia type 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0050954#disease-associations", 
            "id": "0050954", 
            "database": "Alliance of Genome Resources"
        }
    ]
}