{
    "disease_id": "DOID:0070741",
    "recommended_name": {
        "id": "DOID:0070741",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070741",
        "name": "cerebellar atrophy with seizures and variable developmental delay",
        "description": "An autosomal recessive intellectual developmental disorder characterized by cerebellar ataxia associated with atrophy of the cerebellar vermis on brain imaging, seizures, and variable developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D2 gene on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0070741",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070741",
            "name": "CASVDD",
            "description": ""
        },
        {
            "id": "MONDO:0032788",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032788",
            "name": "cerebellar atrophy with seizures and variable developmental delay",
            "description": ""
        },
        {
            "id": "MONDO:0032788",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032788",
            "name": "CASVDD",
            "description": ""
        },
        {
            "id": "MIM:618501",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618501",
            "name": "Cerebellar atrophy with seizures and variable developmental delay",
            "description": "Cerebellar atrophy with seizures and variable developmental delay"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070741"
    ],
    "unlinked_id_list": []
}