{
    "disease_id": "DOID:0080307",
    "recommended_name": {
        "id": "DOID:0080307",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080307",
        "name": "myofibrillar myopathy",
        "description": "A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles."
    },
    "synonyms": [
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "myofibrillar myopathy 1",
            "description": "Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure."
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "cardiomyopathy, dilated, with conduction defect and muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "arrhythmogenic right ventricular dysplasia, familial, 7, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "IBM1",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "arrhythmogenic right ventricular cardiomyopathy 7",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "CMD1F and LGMD1D, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "myopathy, myofibrillar, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "arrhythmogenic right ventricular dysplasia, familial, 7",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "myopathy, myofibrillar, 1",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "myofibrillar myopathy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "desmin-related myofibrillar myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "myofibrillar myopathy (disease) caused by mutation in DES",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "myopathy, myofibrillar, desmin-related",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "desminopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "desminopathy, primary",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "MFM1",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "myopathy, myofibrillar, 1; MFM1",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "inclusion body myopathy 1, autosomal dominant, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "CMD1F and LGMD1D",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "DES myofibrillar myopathy (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "arrhythmogenic right ventricular cardiomyopathy 7, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "desmin-related myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "inclusion body myopathy 1, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:601419",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601419",
            "name": "Myopathy, myofibrillar, 1",
            "description": "Myopathy, myofibrillar, 1"
        }
    ]
}