{
    "disease_id": "DOID:0080100", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009710", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009710", 
            "name": "myotonia congenita"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009710", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009710", 
            "name": "Thomsen's disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009710", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009710", 
            "name": "myopathy, congenital"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009710", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009710", 
            "name": "Thomsen and Becker disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009710", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009710", 
            "name": "congenital myotonia, autosomal dominant form"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009710", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009710", 
            "name": "batten-Turner congenital myopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009710", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009710", 
            "name": "Thomsen disease"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080100", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080100", 
            "name": "Batten Turner congenital myopathy"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080100", 
        "description": "A myopathy that is characterized by the lack of muscle tone or floppiness at birth.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080100", 
        "name": "congenital myopathy"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080100#disease-associations", 
            "id": "0080100", 
            "database": "Alliance of Genome Resources"
        }
    ]
}