{
    "disease_id": "DOID:3635", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011088", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011088", 
            "name": "congenital myasthenic syndrome 1A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011088", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011088", 
            "name": "CMS2A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011088", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011088", 
            "name": "myasthenic syndrome, congenital, type IIa, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011088", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011088", 
            "name": "myasthenic syndrome, congenital, type IIa"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011088", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011088", 
            "name": "CMS1A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011088", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011088", 
            "name": "congenital myasthenic syndrome type IIa"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011088", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011088", 
            "name": "congenital myasthenic syndrome 1A, slow-channel"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011088", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011088", 
            "name": "myasthenic syndrome, congenital, 1A, slow-channel; CMS1A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011088", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011088", 
            "name": "CMS IIa"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011088", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011088", 
            "name": "CHRNA1 congenital myasthenic syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011088", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011088", 
            "name": "myasthenic syndrome, congenital, 1A, slow-channel"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011088", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011088", 
            "name": "Cms IIa, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011088", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011088", 
            "name": "congenital myasthenic syndrome caused by mutation in CHRNA1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011088", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011088", 
            "name": "congenital myasthenic syndrome type 1A"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:3635", 
        "description": "A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).", 
        "resource": "Disease Ontology", 
        "id": "DOID:3635", 
        "name": "congenital myasthenic syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/3635#disease-associations", 
            "id": "3635", 
            "database": "Alliance of Genome Resources"
        }
    ]
}