{
    "disease_id": "DOID:0110677",
    "recommended_name": {
        "id": "DOID:0110677",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110677",
        "name": "congenital myasthenic syndrome 4B",
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110677",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110677",
            "name": "CMS4B",
            "description": ""
        },
        {
            "id": "DOID:0110677",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110677",
            "name": "congenital myasthenic syndrome 4B fast-channel",
            "description": ""
        },
        {
            "id": "MONDO:0014586",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014586",
            "name": "congenital myasthenic syndrome 4B",
            "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13."
        },
        {
            "id": "MONDO:0014586",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014586",
            "name": "CMS4B",
            "description": ""
        },
        {
            "id": "MONDO:0014586",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014586",
            "name": "congenital myasthenic syndrome type 4B",
            "description": ""
        },
        {
            "id": "MONDO:0014586",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014586",
            "name": "myasthenic syndrome, congenital, 4B, FAST-channel",
            "description": ""
        },
        {
            "id": "MIM:616324",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616324",
            "name": "Myasthenic syndrome, congenital, 4B, fast-channel",
            "description": "Myasthenic syndrome, congenital, 4B, fast-channel"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110677"
    ],
    "unlinked_id_list": []
}