{
    "disease_id": "DOID:0070711",
    "recommended_name": {
        "id": "DOID:0070711",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070711",
        "name": "Harel-Tora neurodevelopmental syndrome",
        "description": "An autosomal dominant intellectual developmental disorder characterized by global developmental delay, hypotonia, delayed walking, variably impaired intellectual development with speech delay, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the ATXN7L3 gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0980703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980703",
            "name": "Harel-Tora neurodevelopmental syndrome",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070711"
    ],
    "unlinked_id_list": []
}