{
    "disease_id": "DOID:0110673", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014745", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014745", 
            "name": "congenital myasthenic syndrome type 19"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014745", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014745", 
            "name": "myasthenic syndrome, congenital, type 19"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014745", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014745", 
            "name": "congenital myasthenic syndrome caused by mutation in COL13A1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014745", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014745", 
            "name": "COL13A1 congenital myasthenic syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014745", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014745", 
            "name": "CMS19"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014745", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014745", 
            "name": "myasthenic syndrome, congenital, 19; CMS19"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014745", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014745", 
            "name": "myasthenic syndrome, congenital, 19"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110673", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110673", 
            "name": "CMS19"
        }, 
        {
            "url": "https://www.omim.org/entry/616720", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:616720", 
            "name": "Myasthenic syndrome, congenital, 19"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110673", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110673", 
        "name": "congenital myasthenic syndrome 19"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/616720", 
            "id": "616720", 
            "database": "MIM"
        }
    ]
}