{
    "disease_id": "DOID:0081353",
    "recommended_name": {
        "id": "DOID:0081353",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0081353",
        "name": "congenital myopathy 21",
        "description": "A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31."
    },
    "synonyms": []
}