{
    "disease_id": "DOID:0110677", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014586", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014586", 
            "name": "congenital myasthenic syndrome type 4B"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014586", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014586", 
            "name": "congenital myasthenic syndrome 4B fast-channel"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014586", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014586", 
            "name": "myasthenic syndrome, congenital, 4B, FAST-channel"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014586", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014586", 
            "name": "myasthenic syndrome, congenital, 4B, FAST-channel; CMS4B"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014586", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014586", 
            "name": "CMS4B"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110677", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110677", 
            "name": "CMS4B"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110677", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110677", 
            "name": "congenital myasthenic syndrome 4B fast-channel"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110677", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110677", 
        "name": "congenital myasthenic syndrome 4B"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0110677#disease-associations", 
            "id": "0110677", 
            "database": "Alliance of Genome Resources"
        }
    ]
}