{
    "disease_id": "DOID:0110681", 
    "synonyms": [
        {
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            "description": "", 
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            "description": "", 
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        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
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        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
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        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
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        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
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        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
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            "name": "myasthenic syndrome, congenital, slow-channel"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014581", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014581", 
            "name": "congenital myasthenic syndrome type 2A"
        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014581", 
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        }, 
        {
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            "description": "", 
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            "id": "MONDO:0014581", 
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        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
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            "name": "CMS IIa"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110681", 
            "description": "", 
            "resource": "Disease Ontology", 
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            "name": "CMS2A"
        }, 
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            "description": "", 
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        {
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            "description": "", 
            "resource": "MIM", 
            "id": "MIM:616313", 
            "name": "Myasthenic syndrome, congenital, 2A, slow-channel"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110681", 
        "description": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110681", 
        "name": "congenital myasthenic syndrome 2A"
    }, 
    "evidence": [
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            "id": "616313", 
            "database": "MIM"
        }
    ]
}