{
    "disease_id": "DOID:0081346",
    "recommended_name": {
        "id": "DOID:0081346",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081346",
        "name": "congenital myopathy 14",
        "description": "A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time."
    },
    "synonyms": [
        {
            "id": "MONDO:0034109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034109",
            "name": "congenital myopathy with reduced type 2 muscle fibers",
            "description": ""
        },
        {
            "id": "MONDO:0034109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034109",
            "name": "myopathy, congenital, with fast-twitch (type II) fiber atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0034109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034109",
            "name": "myopathy, congenital, with fast-twitch (type II) fibre atrophy",
            "description": ""
        },
        {
            "id": "MIM:618414",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618414",
            "name": "Congenital myopathy 14",
            "description": "Congenital myopathy 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081346"
    ],
    "unlinked_id_list": []
}