{
    "disease_id": "DOID:0110676",
    "recommended_name": {
        "id": "DOID:0110676",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110676",
        "name": "congenital myasthenic syndrome 13",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0110676",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110676",
            "name": "CMS13",
            "description": ""
        },
        {
            "id": "DOID:0110676",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110676",
            "name": "CMSTA2",
            "description": ""
        },
        {
            "id": "DOID:0110676",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110676",
            "name": "congenital myasthenic syndrome with tubular aggregates 2",
            "description": ""
        },
        {
            "id": "DOID:0110676",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110676",
            "name": "congenital myasthenic syndrome 13 with tubular aggregates",
            "description": ""
        },
        {
            "id": "MONDO:0013883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013883",
            "name": "congenital myasthenic syndrome 13",
            "description": "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene."
        },
        {
            "id": "MONDO:0013883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013883",
            "name": "CMS13",
            "description": ""
        },
        {
            "id": "MONDO:0013883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013883",
            "name": "CMSTA2",
            "description": ""
        },
        {
            "id": "MONDO:0013883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013883",
            "name": "DPAGT1 congenital myasthenic syndromes with glycosylation defect",
            "description": ""
        },
        {
            "id": "MONDO:0013883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013883",
            "name": "congenital myasthenic syndrome 13 with tubular aggregates",
            "description": ""
        },
        {
            "id": "MONDO:0013883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013883",
            "name": "congenital myasthenic syndrome type 13",
            "description": ""
        },
        {
            "id": "MONDO:0013883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013883",
            "name": "congenital myasthenic syndrome with tubular aggregates 2",
            "description": ""
        },
        {
            "id": "MONDO:0013883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013883",
            "name": "congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1",
            "description": ""
        },
        {
            "id": "MONDO:0013883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013883",
            "name": "myasthenic syndrome, congenital, 13, with tubular aggregates",
            "description": ""
        },
        {
            "id": "MONDO:0013883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013883",
            "name": "myasthenic syndrome, congenital, type 13",
            "description": ""
        },
        {
            "id": "MONDO:0013883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013883",
            "name": "myasthenic syndrome, congenital, 13",
            "description": ""
        },
        {
            "id": "MONDO:0013883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013883",
            "name": "myasthenic syndrome, congenital, with tubular aggregates 2",
            "description": ""
        },
        {
            "id": "MIM:614750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614750",
            "name": "Myasthenic syndrome, congenital, 13",
            "description": "Myasthenic syndrome, congenital, 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110676"
    ],
    "unlinked_id_list": []
}