{
    "disease_id": "DOID:0081348",
    "recommended_name": {
        "id": "DOID:0081348",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081348",
        "name": "congenital myopathy 16",
        "description": "A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs."
    },
    "synonyms": [
        {
            "id": "MONDO:0032797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032797",
            "name": "myopathy, congenital, with tremor",
            "description": ""
        },
        {
            "id": "MONDO:0032797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032797",
            "name": "MYOTREM",
            "description": ""
        },
        {
            "id": "MIM:618524",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618524",
            "name": "Congenital myopathy 16",
            "description": "Congenital myopathy 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081348"
    ],
    "unlinked_id_list": []
}