{
    "disease_id": "DOID:0110663",
    "recommended_name": {
        "id": "DOID:0110663",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110663",
        "name": "congenital myasthenic syndrome 1A",
        "description": "A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q."
    },
    "synonyms": [
        {
            "id": "DOID:0110663",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110663",
            "name": "CMS IIa",
            "description": ""
        },
        {
            "id": "DOID:0110663",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110663",
            "name": "CMS1A",
            "description": ""
        },
        {
            "id": "DOID:0110663",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110663",
            "name": "congenital myasthenic syndrome 1A, slow-channel",
            "description": ""
        },
        {
            "id": "DOID:0110663",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110663",
            "name": "congenital myasthenic syndrome type IIa",
            "description": ""
        },
        {
            "id": "MONDO:0011088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011088",
            "name": "congenital myasthenic syndrome 1A",
            "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene."
        },
        {
            "id": "MONDO:0011088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011088",
            "name": "CMS2A",
            "description": ""
        },
        {
            "id": "MONDO:0011088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011088",
            "name": "myasthenic syndrome, congenital, type IIa, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0011088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011088",
            "name": "myasthenic syndrome, congenital, type IIa",
            "description": ""
        },
        {
            "id": "MONDO:0011088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011088",
            "name": "CMS1A",
            "description": ""
        },
        {
            "id": "MONDO:0011088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011088",
            "name": "congenital myasthenic syndrome type IIa",
            "description": ""
        },
        {
            "id": "MONDO:0011088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011088",
            "name": "congenital myasthenic syndrome 1A, slow-channel",
            "description": ""
        },
        {
            "id": "MONDO:0011088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011088",
            "name": "myasthenic syndrome, congenital, 1A, slow-channel; CMS1A",
            "description": ""
        },
        {
            "id": "MONDO:0011088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011088",
            "name": "CMS IIa",
            "description": ""
        },
        {
            "id": "MONDO:0011088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011088",
            "name": "CHRNA1 congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011088",
            "name": "myasthenic syndrome, congenital, 1A, slow-channel",
            "description": ""
        },
        {
            "id": "MONDO:0011088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011088",
            "name": "Cms IIa, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0011088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011088",
            "name": "congenital myasthenic syndrome caused by mutation in CHRNA1",
            "description": ""
        },
        {
            "id": "MONDO:0011088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011088",
            "name": "Cms IIa",
            "description": ""
        },
        {
            "id": "MONDO:0011088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011088",
            "name": "congenital myasthenic syndrome type 1A",
            "description": ""
        },
        {
            "id": "MIM:601462",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601462",
            "name": "Myasthenic syndrome, congenital, 1A, slow-channel",
            "description": "Myasthenic syndrome, congenital, 1A, slow-channel"
        }
    ]
}