{
    "disease_id": "DOID:0080307",
    "recommended_name": {
        "id": "DOID:0080307",
        "resource": "Disease Ontology",
        "url": "https://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": "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": "DES autosomal recessive limb-girdle muscular dystrophy",
            "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": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2R",
            "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": "desminopathy",
            "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": "myofibrillar myopathy 1",
            "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": "myopathy, myofibrillar, type 1",
            "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": "IBM1",
            "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": "arrhythmogenic right ventricular cardiomyopathy 7",
            "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": "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D",
            "description": ""
        },
        {
            "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": "inclusion body myopathy 1, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0011076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011076",
            "name": "myopathy, myofibrillar, 1",
            "description": ""
        },
        {
            "id": "MIM:601419",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601419",
            "name": "Myopathy, myofibrillar, 1",
            "description": "Myopathy, myofibrillar, 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0051044",
            "label": "infantile-onset myofibrillar myopathy 12 with cardiomyopathy",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0051045",
            "label": "myofibrillar myopathy 13 with rimmed vacuoles",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080092",
            "label": "myofibrillar myopathy 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080093",
            "label": "adult-onset myofibrillar myopathy 2A",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080094",
            "label": "myofibrillar myopathy 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080095",
            "label": "myofibrillar myopathy 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080096",
            "label": "myofibrillar myopathy 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080097",
            "label": "myofibrillar myopathy 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080098",
            "label": "myofibrillar myopathy 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080308",
            "label": "myofibrillar myopathy 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080309",
            "label": "infantile-onset myofibrillar myopathy-2B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081338",
            "label": "myofibrillar myopathy 11",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111188",
            "label": "myofibrillar myopathy 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112108",
            "label": "myofibrillar myopathy 10",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080097",
        "DOID:0080308",
        "DOID:0080098",
        "DOID:0080095",
        "DOID:0111188",
        "DOID:0051045",
        "DOID:0080092",
        "DOID:0080094",
        "DOID:0051044",
        "DOID:0080093",
        "DOID:0112108",
        "DOID:0081338",
        "DOID:0080307",
        "DOID:0080096",
        "DOID:0080309"
    ],
    "unlinked_id_list": []
}