{
    "disease_id": "DOID:0110657",
    "recommended_name": {
        "id": "DOID:0110657",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110657",
        "name": "congenital myasthenic syndrome 8",
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p."
    },
    "synonyms": [
        {
            "id": "DOID:0110657",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110657",
            "name": "congenital myasthenic syndrome 8 with pre- and postsynaptic defects",
            "description": ""
        },
        {
            "id": "DOID:0110657",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110657",
            "name": "CMS8",
            "description": ""
        },
        {
            "id": "DOID:0110657",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110657",
            "name": "congenital myasthenic syndrome due to agrin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014052",
            "name": "congenital myasthenic syndrome 8",
            "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene."
        },
        {
            "id": "MONDO:0014052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014052",
            "name": "AGRN congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014052",
            "name": "CMS8",
            "description": ""
        },
        {
            "id": "MONDO:0014052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014052",
            "name": "congenital myasthenic syndrome 8",
            "description": ""
        },
        {
            "id": "MONDO:0014052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014052",
            "name": "congenital myasthenic syndrome caused by mutation in AGRN",
            "description": ""
        },
        {
            "id": "MONDO:0014052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014052",
            "name": "congenital myasthenic syndrome type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014052",
            "name": "myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects",
            "description": ""
        },
        {
            "id": "MONDO:0014052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014052",
            "name": "myasthenic syndrome, congenital, type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014052",
            "name": "myasthenic syndrome, congenital, 8",
            "description": ""
        },
        {
            "id": "MIM:615120",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615120",
            "name": "Myasthenic syndrome, congenital, 8",
            "description": "Myasthenic syndrome, congenital, 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110657"
    ],
    "unlinked_id_list": []
}