{
    "disease_id": "DOID:0110680", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014582", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014582", 
            "name": "CMS2C"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014582", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014582", 
            "name": "myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency; CMS2C"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014582", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014582", 
            "name": "congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014582", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014582", 
            "name": "myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014582", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014582", 
            "name": "congenital myasthenic syndrome type 2C"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110680", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110680", 
            "name": "congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110680", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110680", 
            "name": "CMS2C"
        }, 
        {
            "url": "https://www.omim.org/entry/616314", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:616314", 
            "name": "Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110680", 
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110680", 
        "name": "congenital myasthenic syndrome 2C"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/616314", 
            "id": "616314", 
            "database": "MIM"
        }
    ]
}