{
    "disease_id": "DOID:0080581", 
    "synonyms": [], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080581", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080581", 
        "name": "hyperekplexia 4"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080581#disease-associations", 
            "id": "0080581", 
            "database": "Alliance of Genome Resources"
        }
    ]
}