{
    "disease_id": "DOID:0070721",
    "recommended_name": {
        "id": "DOID:0070721",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070721",
        "name": "Valence-Farazi cerebellar ataxia syndrome",
        "description": "An autosomal recessive cerebellar ataxia characterized by hypotonia, delayed motor development with mildly delayed walking, ataxic gait, clumsiness, and cerebellar hypoplasia or dysplasia on brain imaging that has_material_basis_in homozygous mutation in the SKOR2 gene on chromosome 18q21."
    },
    "synonyms": [
        {
            "id": "DOID:0070721",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070721",
            "name": "VAFCAS",
            "description": ""
        },
        {
            "id": "MONDO:0980707",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980707",
            "name": "Valence-Farazi cerebellar ataxia syndrome",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070721"
    ],
    "unlinked_id_list": []
}
