{
    "disease_id": "DOID:0080581",
    "recommended_name": {
        "id": "DOID:0080581",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080581",
        "name": "hyperekplexia 4",
        "description": "A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appeareance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23."
    },
    "synonyms": []
}