{
    "disease_id": "DOID:0050978",
    "recommended_name": {
        "id": "DOID:0050978",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050978",
        "name": "spinocerebellar ataxia 29",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0007298",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007298",
            "name": "spinocerebellar ataxia type 29",
            "description": "Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability."
        },
        {
            "id": "MONDO:0007298",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007298",
            "name": "SCA29",
            "description": ""
        },
        {
            "id": "MONDO:0007298",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007298",
            "name": "congenital nonprogressive spinocerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0007298",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007298",
            "name": "spinocerebellar ataxia 29, congenital nonprogressive",
            "description": ""
        },
        {
            "id": "MONDO:0007298",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007298",
            "name": "spinocerebellar ataxia type 29",
            "description": ""
        },
        {
            "id": "MONDO:0007298",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007298",
            "name": "ACV",
            "description": ""
        },
        {
            "id": "MONDO:0007298",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007298",
            "name": "cerebellar ataxia early-onset nonprogressive",
            "description": ""
        },
        {
            "id": "MONDO:0007298",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007298",
            "name": "spinocerebellar ataxia 29",
            "description": ""
        },
        {
            "id": "MIM:117360",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/117360",
            "name": "Spinocerebellar ataxia 29",
            "description": "Spinocerebellar ataxia 29"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050978"
    ],
    "unlinked_id_list": []
}