{
    "disease_id": "DOID:0110674",
    "recommended_name": {
        "id": "DOID:0110674",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110674",
        "name": "congenital myasthenic syndrome 17",
        "description": "A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11."
    },
    "synonyms": [
        {
            "id": "DOID:0110674",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110674",
            "name": "CMS17",
            "description": ""
        },
        {
            "id": "MONDO:0014578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014578",
            "name": "congenital myasthenic syndrome 17",
            "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene."
        },
        {
            "id": "MONDO:0014578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014578",
            "name": "congenital myasthenic syndrome type 17",
            "description": ""
        },
        {
            "id": "MONDO:0014578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014578",
            "name": "myasthenic syndrome, congenital, type 17",
            "description": ""
        },
        {
            "id": "MONDO:0014578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014578",
            "name": "myasthenic syndrome, congenital, 17; CMS17",
            "description": ""
        },
        {
            "id": "MONDO:0014578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014578",
            "name": "CMS17",
            "description": ""
        },
        {
            "id": "MONDO:0014578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014578",
            "name": "LRP4 congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014578",
            "name": "congenital myasthenic syndrome caused by mutation in LRP4",
            "description": ""
        },
        {
            "id": "MONDO:0014578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014578",
            "name": "myasthenic syndrome, congenital, 17",
            "description": ""
        },
        {
            "id": "MIM:616304",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616304",
            "name": "Myasthenic syndrome, congenital, 17",
            "description": "Myasthenic syndrome, congenital, 17"
        }
    ]
}