{
    "disease_id": "DOID:0110670", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014587", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014587", 
            "name": "CMS9"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014587", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014587", 
            "name": "MUSK congenital myasthenic syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014587", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014587", 
            "name": "congenital myasthenic syndrome caused by mutation in MUSK"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014587", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014587", 
            "name": "myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014587", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014587", 
            "name": "congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014587", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014587", 
            "name": "myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; CMS9"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014587", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014587", 
            "name": "congenital myasthenic syndrome type 9"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110670", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110670", 
            "name": "congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110670", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110670", 
            "name": "CMS9"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110670", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110670", 
        "name": "congenital myasthenic syndrome 9"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0110670#disease-associations", 
            "id": "0110670", 
            "database": "Alliance of Genome Resources"
        }
    ]
}