{
    "disease_id": "DOID:0110673",
    "recommended_name": {
        "id": "DOID:0110673",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110673",
        "name": "congenital myasthenic syndrome 19",
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110673",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110673",
            "name": "CMS19",
            "description": ""
        },
        {
            "id": "MONDO:0014745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014745",
            "name": "congenital myasthenic syndrome 19",
            "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene."
        },
        {
            "id": "MONDO:0014745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014745",
            "name": "congenital myasthenic syndrome type 19",
            "description": ""
        },
        {
            "id": "MONDO:0014745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014745",
            "name": "myasthenic syndrome, congenital, type 19",
            "description": ""
        },
        {
            "id": "MONDO:0014745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014745",
            "name": "congenital myasthenic syndrome caused by mutation in COL13A1",
            "description": ""
        },
        {
            "id": "MONDO:0014745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014745",
            "name": "COL13A1 congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014745",
            "name": "CMS19",
            "description": ""
        },
        {
            "id": "MONDO:0014745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014745",
            "name": "myasthenic syndrome, congenital, 19; CMS19",
            "description": ""
        },
        {
            "id": "MONDO:0014745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014745",
            "name": "myasthenic syndrome, congenital, 19",
            "description": ""
        },
        {
            "id": "MIM:616720",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616720",
            "name": "Myasthenic syndrome, congenital, 19",
            "description": "Myasthenic syndrome, congenital, 19"
        }
    ]
}