{
    "disease_id": "DOID:0081338",
    "recommended_name": {
        "id": "DOID:0081338",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081338",
        "name": "myofibrillar myopathy 11",
        "description": "A myofibrillar myopathy that is characterized by onset of slowly progressive proximal muscle weakness in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the UNC45B gene on chromosome 17q11."
    },
    "synonyms": [
        {
            "id": "DOID:0081338",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081338",
            "name": "MFM11",
            "description": ""
        },
        {
            "id": "MONDO:0030927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030927",
            "name": "myofibrillar myopathy 11",
            "description": ""
        },
        {
            "id": "MONDO:0030927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030927",
            "name": "MFM11",
            "description": ""
        },
        {
            "id": "MONDO:0030927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030927",
            "name": "myopathy, congenital, with eccentric cores",
            "description": ""
        },
        {
            "id": "MIM:619178",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619178",
            "name": "Myopathy, myofibrillar, 11",
            "description": "Myopathy, myofibrillar, 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081338"
    ],
    "unlinked_id_list": []
}