{
    "disease_id": "DOID:0080103",
    "recommended_name": {
        "id": "DOID:0080103",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080103",
        "name": "cylindrical spirals myopathy",
        "description": "A congenital myopathy that is characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions."
    },
    "synonyms": [
        {
            "id": "MONDO:0008058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008058",
            "name": "cylindrical spirals myopathy",
            "description": "Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated."
        },
        {
            "id": "MONDO:0008058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008058",
            "name": "myotonic myopathy with cylindrical spirals",
            "description": ""
        }
    ]
}