{
    "disease_id": "DOID:0110670",
    "recommended_name": {
        "id": "DOID:0110670",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110670",
        "name": "congenital myasthenic syndrome 9",
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31."
    },
    "synonyms": [
        {
            "id": "DOID:0110670",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110670",
            "name": "congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110670",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110670",
            "name": "CMS9",
            "description": ""
        },
        {
            "id": "MONDO:0014587",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014587",
            "name": "congenital myasthenic syndrome 9",
            "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene."
        },
        {
            "id": "MONDO:0014587",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014587",
            "name": "CMS9",
            "description": ""
        },
        {
            "id": "MONDO:0014587",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014587",
            "name": "MUSK congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014587",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014587",
            "name": "congenital myasthenic syndrome caused by mutation in MUSK",
            "description": ""
        },
        {
            "id": "MONDO:0014587",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014587",
            "name": "congenital myasthenic syndrome type 9",
            "description": ""
        },
        {
            "id": "MONDO:0014587",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014587",
            "name": "myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency",
            "description": ""
        },
        {
            "id": "MIM:616325",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616325",
            "name": "Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency",
            "description": "Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110670"
    ],
    "unlinked_id_list": []
}