{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014590", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014590", 
            "name": "myasthenic syndrome, congenital, 18, with intellectual disability and ataxia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014590", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014590", 
            "name": "congenital myasthenic syndrome caused by mutation in SNAP25"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014590", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014590", 
            "name": "CMS18"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014590", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014590", 
            "name": "SNAP25 congenital myasthenic syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014590", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014590", 
            "name": "myasthenic syndrome, congenital, type 18"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014590", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014590", 
            "name": "myasthenic syndrome, congenital, 18; CMS18"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014590", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014590", 
            "name": "congenital myasthenic syndrome type 18"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014590", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014590", 
            "name": "myasthenic syndrome, congenital, 18"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110683", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110683", 
            "name": "CMS18"
        }, 
        {
            "url": "https://www.omim.org/entry/616330", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:616330", 
            "name": "Myasthenic syndrome, congenital, 18"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110683", 
        "description": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia  that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110683", 
        "name": "congenital myasthenic syndrome 18"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/616330", 
            "id": "616330", 
            "database": "MIM"
        }
    ]
}