{
    "disease_id": "DOID:0110676", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013883", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013883", 
            "name": "CMS13"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013883", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013883", 
            "name": "myasthenic syndrome, congenital, 13"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013883", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013883", 
            "name": "CMSTA2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013883", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013883", 
            "name": "myasthenic syndrome, congenital, with tubular aggregates 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013883", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013883", 
            "name": "DPAGT1 congenital myasthenic syndromes with glycosylation defect"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013883", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013883", 
            "name": "congenital myasthenic syndrome type 13"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013883", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013883", 
            "name": "myasthenic syndrome, congenital, 13; CMS13"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013883", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013883", 
            "name": "congenital myasthenic syndrome 13 with tubular aggregates"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013883", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013883", 
            "name": "congenital myasthenic syndrome with tubular aggregates 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013883", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013883", 
            "name": "congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013883", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013883", 
            "name": "myasthenic syndrome, congenital, type 13"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110676", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110676", 
            "name": "CMS13"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110676", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110676", 
            "name": "CMSTA2"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110676", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110676", 
            "name": "congenital myasthenic syndrome with tubular aggregates 2"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110676", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110676", 
            "name": "congenital myasthenic syndrome 13 with tubular aggregates"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110676", 
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors  that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110676", 
        "name": "congenital myasthenic syndrome 13"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0110676#disease-associations", 
            "id": "0110676", 
            "database": "Alliance of Genome Resources"
        }
    ]
}