{
    "disease_id": "DOID:0110675",
    "recommended_name": {
        "id": "DOID:0110675",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110675",
        "name": "congenital myasthenic syndrome 11",
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11."
    },
    "synonyms": [
        {
            "id": "DOID:0110675",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110675",
            "name": "CMS Ie",
            "description": ""
        },
        {
            "id": "DOID:0110675",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110675",
            "name": "CMS11",
            "description": ""
        },
        {
            "id": "DOID:0110675",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110675",
            "name": "CMS1E",
            "description": ""
        },
        {
            "id": "DOID:0110675",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110675",
            "name": "congenital myasthenic syndrome 1e",
            "description": ""
        },
        {
            "id": "DOID:0110675",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110675",
            "name": "congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014588",
            "name": "congenital myasthenic syndrome 11",
            "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene."
        },
        {
            "id": "MONDO:0014588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014588",
            "name": "CMS11",
            "description": ""
        },
        {
            "id": "MONDO:0014588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014588",
            "name": "RAPSN congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014588",
            "name": "congenital myasthenic syndrome caused by mutation in RAPSN",
            "description": ""
        },
        {
            "id": "MONDO:0014588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014588",
            "name": "congenital myasthenic syndrome type 11",
            "description": ""
        },
        {
            "id": "MONDO:0014588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014588",
            "name": "Cms Ie",
            "description": ""
        },
        {
            "id": "MONDO:0014588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014588",
            "name": "myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014588",
            "name": "myasthenic syndrome, congenital, Ie",
            "description": ""
        },
        {
            "id": "MIM:616326",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616326",
            "name": "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency",
            "description": "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110675"
    ],
    "unlinked_id_list": []
}