{
    "disease_id": "DOID:0060340",
    "recommended_name": {
        "id": "DOID:0060340",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060340",
        "name": "ciliopathy",
        "description": "A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia."
    },
    "synonyms": []
}