{
    "disease_id": "DOID:0081349",
    "recommended_name": {
        "id": "DOID:0081349",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081349",
        "name": "congenital myopathy 17",
        "description": "A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15."
    },
    "synonyms": [
        {
            "id": "MONDO:0033548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033548",
            "name": "myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies",
            "description": ""
        },
        {
            "id": "MONDO:0033548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033548",
            "name": "MYODRIF",
            "description": ""
        },
        {
            "id": "MIM:618975",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618975",
            "name": "Congenital myopathy 17",
            "description": "Congenital myopathy 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081349"
    ],
    "unlinked_id_list": []
}