{
    "disease_id": "DOID:0050772",
    "recommended_name": {
        "id": "DOID:0050772",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050772",
        "name": "spastic ataxia 1",
        "description": "A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0007164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007164",
            "name": "spastic ataxia 1",
            "description": "Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene."
        },
        {
            "id": "MONDO:0007164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007164",
            "name": "spastic ataxia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007164",
            "name": "autosomal dominant spastic ataxia caused by mutation in VAMP1",
            "description": ""
        },
        {
            "id": "MONDO:0007164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007164",
            "name": "SPAX1",
            "description": ""
        },
        {
            "id": "MONDO:0007164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007164",
            "name": "autosomal dominant spastic ataxia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007164",
            "name": "spastic ataxia 1, autosomal dominant; SPAX1",
            "description": ""
        },
        {
            "id": "MONDO:0007164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007164",
            "name": "VAMP1 autosomal dominant spastic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0007164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007164",
            "name": "spastic ataxia 1, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:108600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/108600",
            "name": "Spastic ataxia 1, autosomal dominant",
            "description": "Spastic ataxia 1, autosomal dominant"
        }
    ]
}