{
    "disease_id": "DOID:0081354",
    "recommended_name": {
        "id": "DOID:0081354",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081354",
        "name": "congenital myopathy 22A",
        "description": "A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B."
    },
    "synonyms": [
        {
            "id": "DOID:0081354",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081354",
            "name": "classic congenital myopathy 22A",
            "description": ""
        },
        {
            "id": "MONDO:0957247",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957247",
            "name": "congenital myopathy 22A, classic",
            "description": ""
        },
        {
            "id": "MIM:620351",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620351",
            "name": "Congenital myopathy 22A, classic",
            "description": "Congenital myopathy 22A, classic"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081354"
    ],
    "unlinked_id_list": []
}