{
    "disease_id": "DOID:0050946", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010041", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010041", 
            "name": "ARSACS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010041", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010041", 
            "name": "spastic ataxia of Charlevoix-Saguenay"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010041", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010041", 
            "name": "autosomal recessive spastic ataxia type 6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010041", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010041", 
            "name": "spastic ataxia Charlevoix-Saguenay type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010041", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010041", 
            "name": "sacs"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010041", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010041", 
            "name": "spastic ataxia, Charlevoix-Saguenay type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010041", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010041", 
            "name": "autosomal recessive spastic ataxia of Charlevoix-Saguenay"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010041", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010041", 
            "name": "spastic ataxia 6, autosomal recessive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010041", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010041", 
            "name": "SPAX6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010041", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010041", 
            "name": "spastic ataxia, Charlevoix-Saguenay type; sacs"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050946", 
        "description": "An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050946", 
        "name": "Charlevoix-Saguenay spastic ataxia"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0050946#disease-associations", 
            "id": "0050946", 
            "database": "Alliance of Genome Resources"
        }
    ]
}