{
    "disease_id": "DOID:0110680",
    "recommended_name": {
        "id": "DOID:0110680",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110680",
        "name": "congenital myasthenic syndrome 2C",
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110680",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110680",
            "name": "congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110680",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110680",
            "name": "CMS2C",
            "description": ""
        },
        {
            "id": "MONDO:0014582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014582",
            "name": "congenital myasthenic syndrome 2C",
            "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13."
        },
        {
            "id": "MONDO:0014582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014582",
            "name": "CMS2C",
            "description": ""
        },
        {
            "id": "MONDO:0014582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014582",
            "name": "myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency; CMS2C",
            "description": ""
        },
        {
            "id": "MONDO:0014582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014582",
            "name": "congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014582",
            "name": "myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014582",
            "name": "congenital myasthenic syndrome type 2C",
            "description": ""
        },
        {
            "id": "MIM:616314",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616314",
            "name": "Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency",
            "description": "Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency"
        }
    ]
}