{
    "disease_id": "DOID:0110681",
    "recommended_name": {
        "id": "DOID:0110681",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110681",
        "name": "congenital myasthenic syndrome 2A",
        "description": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110681",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110681",
            "name": "CMS2A",
            "description": ""
        },
        {
            "id": "DOID:0110681",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110681",
            "name": "congenital myasthenic syndrome 2A slow-channel",
            "description": ""
        },
        {
            "id": "MONDO:0014581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014581",
            "name": "congenital myasthenic syndrome 2A",
            "description": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13."
        },
        {
            "id": "MONDO:0014581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014581",
            "name": "CMS2A",
            "description": ""
        },
        {
            "id": "MONDO:0014581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014581",
            "name": "congenital myasthenic syndrome type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0014581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014581",
            "name": "CMS IIa",
            "description": ""
        },
        {
            "id": "MONDO:0014581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014581",
            "name": "SCCMS",
            "description": ""
        },
        {
            "id": "MONDO:0014581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014581",
            "name": "myasthenic syndrome, congenital, 2A, slow-channel",
            "description": ""
        },
        {
            "id": "MONDO:0014581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014581",
            "name": "myasthenic syndrome, congenital, postsynaptic slow-channel",
            "description": ""
        },
        {
            "id": "MONDO:0014581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014581",
            "name": "myasthenic syndrome, congenital, slow-channel",
            "description": ""
        },
        {
            "id": "MONDO:0014581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014581",
            "name": "myasthenic syndrome, congenital, type IIa",
            "description": ""
        },
        {
            "id": "MONDO:0014581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014581",
            "name": "slow channel congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MIM:616313",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616313",
            "name": "Myasthenic syndrome, congenital, 2A, slow-channel",
            "description": "Myasthenic syndrome, congenital, 2A, slow-channel"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110681"
    ],
    "unlinked_id_list": []
}