{
    "disease_id": "DOID:0050946",
    "recommended_name": {
        "id": "DOID:0050946",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050946",
        "name": "Charlevoix-Saguenay spastic ataxia",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0010041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010041",
            "name": "Charlevoix-Saguenay spastic ataxia",
            "description": "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy."
        },
        {
            "id": "MONDO:0010041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010041",
            "name": "ARSACS",
            "description": ""
        },
        {
            "id": "MONDO:0010041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010041",
            "name": "Charlevoix-Saguenay spastic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0010041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010041",
            "name": "SPAX6",
            "description": ""
        },
        {
            "id": "MONDO:0010041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010041",
            "name": "autosomal recessive spastic ataxia type 6",
            "description": ""
        },
        {
            "id": "MONDO:0010041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010041",
            "name": "sacs",
            "description": ""
        },
        {
            "id": "MONDO:0010041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010041",
            "name": "spastic ataxia Charlevoix-Saguenay type",
            "description": ""
        },
        {
            "id": "MONDO:0010041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010041",
            "name": "spastic ataxia of Charlevoix-Saguenay",
            "description": ""
        },
        {
            "id": "MONDO:0010041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010041",
            "name": "spastic ataxia, Charlevoix-Saguenay type",
            "description": ""
        },
        {
            "id": "MIM:270550",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/270550",
            "name": "Spastic ataxia Charlevoix-Saguenay type",
            "description": "Spastic ataxia Charlevoix-Saguenay type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050946"
    ],
    "unlinked_id_list": []
}