{
    "disease_id": "DOID:0110666",
    "recommended_name": {
        "id": "DOID:0110666",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110666",
        "name": "congenital myasthenic syndrome 3A",
        "description": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37."
    },
    "synonyms": [
        {
            "id": "DOID:0110666",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110666",
            "name": "CMS3A",
            "description": ""
        },
        {
            "id": "DOID:0110666",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110666",
            "name": "congenital myasthenic syndrome 3A, slow-channel",
            "description": ""
        },
        {
            "id": "MONDO:0014583",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014583",
            "name": "congenital myasthenic syndrome 3A",
            "description": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37."
        },
        {
            "id": "MONDO:0014583",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014583",
            "name": "CMS3A",
            "description": ""
        },
        {
            "id": "MONDO:0014583",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014583",
            "name": "congenital myasthenic syndrome 3A, slow-channel",
            "description": ""
        },
        {
            "id": "MONDO:0014583",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014583",
            "name": "congenital myasthenic syndrome type 3A",
            "description": ""
        },
        {
            "id": "MONDO:0014583",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014583",
            "name": "myasthenic syndrome, congenital, 3A, slow-channel",
            "description": ""
        },
        {
            "id": "MIM:616321",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616321",
            "name": "Myasthenic syndrome, congenital, 3A, slow-channel",
            "description": "Myasthenic syndrome, congenital, 3A, slow-channel"
        }
    ]
}