{
    "disease_id": "DOID:0080091",
    "recommended_name": {
        "id": "DOID:0080091",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080091",
        "name": "spheroid body myopathy",
        "description": "A myofibrillar myopathy that is characterized by predominantly proximal muscle weakness associated with spheroid body inclusions and that has_material_basis_in heterozygous mutation in the myotilin gene on chromosome 5q31."
    },
    "synonyms": [
        {
            "id": "MONDO:0008448",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008448",
            "name": "spheroid body myopathy",
            "description": "Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations."
        },
        {
            "id": "MONDO:0008448",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008448",
            "name": "myopathy, spheroid body",
            "description": ""
        },
        {
            "id": "MONDO:0008448",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008448",
            "name": "autosomal dominant spheroid body myopathy",
            "description": ""
        },
        {
            "id": "MIM:182920",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/182920",
            "name": "Spheroid body myopathy",
            "description": "Spheroid body myopathy"
        }
    ]
}