{
    "disease_id": "DOID:0050942",
    "recommended_name": {
        "id": "DOID:0050942",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050942",
        "name": "spastic ataxia 3",
        "description": "A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33."
    },
    "synonyms": [
        {
            "id": "MONDO:0012664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012664",
            "name": "spastic ataxia 3",
            "description": "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene."
        },
        {
            "id": "MONDO:0012664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012664",
            "name": "ARSAL",
            "description": ""
        },
        {
            "id": "MONDO:0012664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012664",
            "name": "MARS2 autosomal recessive spastic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0012664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012664",
            "name": "SPAX3",
            "description": ""
        },
        {
            "id": "MONDO:0012664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012664",
            "name": "autosomal recessive spastic ataxia caused by mutation in MARS2",
            "description": ""
        },
        {
            "id": "MONDO:0012664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012664",
            "name": "autosomal recessive spastic ataxia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012664",
            "name": "spastic ataxia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012664",
            "name": "spastic ataxia 3, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:611390",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611390",
            "name": "Spastic ataxia 3, autosomal recessive",
            "description": "Spastic ataxia 3, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050942"
    ],
    "unlinked_id_list": []
}