{
    "disease_id": "DOID:0110678",
    "recommended_name": {
        "id": "DOID:0110678",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110678",
        "name": "congenital myasthenic syndrome 4A",
        "description": "A congenital myasthenic syndrome characterized by 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 or rarely biallelic mutation in the CHRNE gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110678",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110678",
            "name": "CMS Ia1",
            "description": ""
        },
        {
            "id": "DOID:0110678",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110678",
            "name": "CMS1A1",
            "description": ""
        },
        {
            "id": "DOID:0110678",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110678",
            "name": "CMS4A",
            "description": ""
        },
        {
            "id": "DOID:0110678",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110678",
            "name": "congenital myasthenic syndrome 4A slow-channel",
            "description": ""
        },
        {
            "id": "DOID:0110678",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110678",
            "name": "congenital myasthenic syndrometype Ia1",
            "description": ""
        },
        {
            "id": "MONDO:0011600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011600",
            "name": "congenital myasthenic syndrome 4A",
            "description": "A congenital myasthenic syndrome characterized by 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 or rarely biallelic mutation in the CHRNE gene on chromosome 17p13."
        },
        {
            "id": "MONDO:0011600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011600",
            "name": "CMS4A",
            "description": ""
        },
        {
            "id": "MONDO:0011600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011600",
            "name": "congenital myasthenic syndrome type 4A",
            "description": ""
        },
        {
            "id": "MONDO:0011600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011600",
            "name": "Cms Ia1",
            "description": ""
        },
        {
            "id": "MONDO:0011600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011600",
            "name": "congenital myasthenic syndrome type Ia1",
            "description": ""
        },
        {
            "id": "MONDO:0011600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011600",
            "name": "myasthenic syndrome, congenital, 4A, slow-channel",
            "description": ""
        },
        {
            "id": "MIM:605809",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605809",
            "name": "Myasthenic syndrome, congenital, 4A, slow-channel",
            "description": "Myasthenic syndrome, congenital, 4A, slow-channel"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110678"
    ],
    "unlinked_id_list": []
}