{
    "disease_id": "DOID:0110683",
    "recommended_name": {
        "id": "DOID:0110683",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110683",
        "name": "congenital myasthenic syndrome 18",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0110683",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110683",
            "name": "CMS18",
            "description": ""
        },
        {
            "id": "MONDO:0014590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014590",
            "name": "congenital myasthenic syndrome 18",
            "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene."
        },
        {
            "id": "MONDO:0014590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014590",
            "name": "CMS18",
            "description": ""
        },
        {
            "id": "MONDO:0014590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014590",
            "name": "SNAP25 congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014590",
            "name": "congenital myasthenic syndrome caused by mutation in SNAP25",
            "description": ""
        },
        {
            "id": "MONDO:0014590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014590",
            "name": "congenital myasthenic syndrome type 18",
            "description": ""
        },
        {
            "id": "MONDO:0014590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014590",
            "name": "myasthenic syndrome, congenital, type 18",
            "description": ""
        },
        {
            "id": "MONDO:0014590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014590",
            "name": "myasthenic syndrome, congenital, 18",
            "description": ""
        },
        {
            "id": "MONDO:0014590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014590",
            "name": "myasthenic syndrome, congenital, 18, with intellectual disability and ataxia",
            "description": ""
        },
        {
            "id": "MIM:616330",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616330",
            "name": "Myasthenic syndrome, congenital, 18",
            "description": "Myasthenic syndrome, congenital, 18"
        }
    ]
}