{
    "disease_id": "DOID:0110675", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014588", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014588", 
            "name": "Cms Ie"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014588", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014588", 
            "name": "congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014588", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014588", 
            "name": "congenital myasthenic syndrome 1e"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014588", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014588", 
            "name": "congenital myasthenic syndrome type 11"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014588", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014588", 
            "name": "congenital myasthenic syndrome caused by mutation in RAPSN"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014588", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014588", 
            "name": "myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency; CMS11"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014588", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014588", 
            "name": "RAPSN congenital myasthenic syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014588", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014588", 
            "name": "CMS1E"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014588", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014588", 
            "name": "myasthenic syndrome, congenital, Ie, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014588", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014588", 
            "name": "Cms Ie, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014588", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014588", 
            "name": "myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014588", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014588", 
            "name": "CMS11"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014588", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014588", 
            "name": "myasthenic syndrome, congenital, Ie"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110675", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110675", 
            "name": "CMS Ie"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110675", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110675", 
            "name": "CMS11"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110675", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110675", 
            "name": "CMS1E"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110675", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110675", 
            "name": "congenital myasthenic syndrome 1e"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110675", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110675", 
            "name": "congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110675", 
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of AChR at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110675", 
        "name": "congenital myasthenic syndrome 11"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0110675#disease-associations", 
            "id": "0110675", 
            "database": "Alliance of Genome Resources"
        }
    ]
}