{
    "disease_id": "DOID:0081343",
    "recommended_name": {
        "id": "DOID:0081343",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081343",
        "name": "congenital myopathy 9A",
        "description": "A congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28."
    },
    "synonyms": [
        {
            "id": "MONDO:0032936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032936",
            "name": "myopathy, congenital, with respiratory insufficiency and bone fractures",
            "description": ""
        },
        {
            "id": "MONDO:0032936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032936",
            "name": "MYORIBF",
            "description": ""
        },
        {
            "id": "MIM:618822",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618822",
            "name": "Congenital myopathy 9A",
            "description": "Congenital myopathy 9A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081343"
    ],
    "unlinked_id_list": []
}