{
    "disease_id": "DOID:0110658",
    "recommended_name": {
        "id": "DOID:0110658",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110658",
        "name": "congenital myasthenic syndrome 15",
        "description": "A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21."
    },
    "synonyms": [
        {
            "id": "DOID:0110658",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110658",
            "name": "CMS15",
            "description": ""
        },
        {
            "id": "DOID:0110658",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110658",
            "name": "congenital myasthenic syndrome 15 without tubular aggregates",
            "description": ""
        },
        {
            "id": "MONDO:0014542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014542",
            "name": "congenital myasthenic syndrome 15",
            "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene."
        },
        {
            "id": "MONDO:0014542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014542",
            "name": "myasthenic syndrome, congenital, 15",
            "description": ""
        },
        {
            "id": "MONDO:0014542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014542",
            "name": "congenital myasthenic syndrome type 15",
            "description": ""
        },
        {
            "id": "MONDO:0014542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014542",
            "name": "ALG14 congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014542",
            "name": "CMS15",
            "description": ""
        },
        {
            "id": "MONDO:0014542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014542",
            "name": "congenital myasthenic syndrome 15 without tubular aggregates",
            "description": ""
        },
        {
            "id": "MONDO:0014542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014542",
            "name": "congenital myasthenic syndrome caused by mutation in ALG14",
            "description": ""
        },
        {
            "id": "MONDO:0014542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014542",
            "name": "myasthenic syndrome, congenital, 15; CMS15",
            "description": ""
        },
        {
            "id": "MONDO:0014542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014542",
            "name": "myasthenic syndrome, congenital, type 15",
            "description": ""
        },
        {
            "id": "MONDO:0014542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014542",
            "name": "myasthenic syndrome, congenital, without tubular aggregates",
            "description": ""
        },
        {
            "id": "MIM:616227",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616227",
            "name": "Myasthenic syndrome, congenital, 15",
            "description": "Myasthenic syndrome, congenital, 15"
        }
    ]
}