{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014468", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014468", 
            "name": "myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014468", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014468", 
            "name": "congenital myasthenic syndrome type 7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014468", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014468", 
            "name": "CMS7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014468", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014468", 
            "name": "SYT2 congenital myasthenic syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014468", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014468", 
            "name": "myasthenic syndrome, congenital, 7, presynaptic"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014468", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014468", 
            "name": "myasthenic syndrome, congenital, 7, presynaptic; CMS7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014468", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014468", 
            "name": "congenital myasthenic syndrome 7 presynaptic"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014468", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014468", 
            "name": "congenital myasthenic syndrome caused by mutation in SYT2"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110659", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110659", 
            "name": "CMS7"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110659", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110659", 
            "name": "congenital myasthenic syndrome 7 presynaptic"
        }, 
        {
            "url": "https://www.omim.org/entry/616040", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:616040", 
            "name": "Myasthenic syndrome, congenital, 7, presynaptic"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110659", 
        "description": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110659", 
        "name": "congenital myasthenic syndrome 7"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/616040", 
            "id": "616040", 
            "database": "MIM"
        }
    ]
}