{
    "disease_id": "DOID:14717", 
    "synonyms": [
        {
            "url": "http://disease-ontology.org/term/DOID:14717", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:14717", 
            "name": "myotubular myopathy"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:14717", 
        "description": "A myopathy characterized by abnormally located  nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.", 
        "resource": "Disease Ontology", 
        "id": "DOID:14717", 
        "name": "centronuclear myopathy"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/14717#disease-associations", 
            "id": "14717", 
            "database": "Alliance of Genome Resources"
        }
    ]
}