{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0044299", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0044299", 
            "name": "myasthenic syndrome, congenital, 22"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0044299", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0044299", 
            "name": "myasthenic syndrome, congenital, 22; CMS22"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0044299", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0044299", 
            "name": "Prepl deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0044299", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0044299", 
            "name": "CMS22"
        }, 
        {
            "url": "https://www.omim.org/entry/616224", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:616224", 
            "name": "Myasthenic syndrome, congenital, 22"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080587", 
        "description": "A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080587", 
        "name": "congenital myasthenic syndrome 22"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/616224", 
            "id": "616224", 
            "database": "MIM"
        }
    ]
}
