{
    "disease_id": "DOID:0110682", 
    "synonyms": [
        {
            "url": "http://disease-ontology.org/term/DOID:0110682", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110682", 
            "name": "congenital myasthenic syndrome acetazolamide-responsive"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110682", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110682", 
            "name": "CMS16"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013620", 
            "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene.", 
            "resource": "MONDO", 
            "id": "MONDO:0013620", 
            "name": "congenital myasthenic syndrome 16"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013620", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013620", 
            "name": "congenital myasthenic syndrome acetazolamide-responsive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013620", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013620", 
            "name": "congenital myasthenic syndrome type 16"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013620", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013620", 
            "name": "myasthenic syndrome, congenital, 16; CMS16"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013620", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013620", 
            "name": "SCN4A congenital myasthenic syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013620", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013620", 
            "name": "myasthenic syndrome, congenital, Acetazolamide-responsive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013620", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013620", 
            "name": "congenital myasthenic syndrome caused by mutation in SCN4A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013620", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013620", 
            "name": "CMS16"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013620", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013620", 
            "name": "myasthenic syndrome, congenital, 16"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013620", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013620", 
            "name": "myasthenic syndrome, congenital, type 16"
        }, 
        {
            "url": "https://www.omim.org/entry/614198", 
            "description": "Myasthenic syndrome, congenital, 16", 
            "resource": "MIM", 
            "id": "MIM:614198", 
            "name": "Myasthenic syndrome, congenital, 16"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110682", 
        "description": "A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110682", 
        "name": "congenital myasthenic syndrome 16"
    }
}