{
    "disease_id": "DOID:0050963",
    "recommended_name": {
        "id": "DOID:0050963",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050963",
        "name": "spinocerebellar ataxia 13",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the KCNC3 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0011529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011529",
            "name": "spinocerebellar ataxia type 13",
            "description": "Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia."
        },
        {
            "id": "MONDO:0011529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011529",
            "name": "SCA13",
            "description": ""
        },
        {
            "id": "MONDO:0011529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011529",
            "name": "spinocerebellar ataxia type 13",
            "description": ""
        },
        {
            "id": "MONDO:0011529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011529",
            "name": "autosomal dominant cerebellar ataxia with intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0011529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011529",
            "name": "autosomal dominant cerebellar ataxia with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0011529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011529",
            "name": "cerebellar ataxia, autosomal dominant with intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0011529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011529",
            "name": "cerebellar ataxia, autosomal dominant with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0011529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011529",
            "name": "spinocerebellar ataxia 13",
            "description": ""
        },
        {
            "id": "MIM:605259",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605259",
            "name": "Spinocerebellar ataxia 13",
            "description": "Spinocerebellar ataxia 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050963"
    ],
    "unlinked_id_list": []
}