{
    "disease_id": "DOID:0081350",
    "recommended_name": {
        "id": "DOID:0081350",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0081350",
        "name": "congenital myopathy 18",
        "description": "A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32."
    },
    "synonyms": [
        {
            "id": "MONDO:0859514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859514",
            "name": "congenital myopathy 18",
            "description": ""
        },
        {
            "id": "MIM:620246",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620246",
            "name": "Congenital myopathy 18",
            "description": "Congenital myopathy 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081350"
    ],
    "unlinked_id_list": []
}