{
    "disease_id": "DOID:0080587",
    "recommended_name": {
        "id": "DOID:0080587",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080587",
        "name": "congenital myasthenic syndrome 22",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0044299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044299",
            "name": "myasthenic syndrome, congenital, 22",
            "description": ""
        },
        {
            "id": "MONDO:0044299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044299",
            "name": "myasthenic syndrome, congenital, 22; CMS22",
            "description": ""
        },
        {
            "id": "MONDO:0044299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044299",
            "name": "Prepl deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0044299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044299",
            "name": "CMS22",
            "description": ""
        },
        {
            "id": "MIM:616224",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616224",
            "name": "Myasthenic syndrome, congenital, 22",
            "description": "Myasthenic syndrome, congenital, 22"
        }
    ]
}