{
    "disease_id": "DOID:0110657", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014052", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014052", 
            "name": "congenital myasthenic syndrome type 8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014052", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014052", 
            "name": "myasthenic syndrome, congenital, with Pre- and postsynaptic defects"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014052", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014052", 
            "name": "congenital myasthenic syndrome 8 with pre- and postsynaptic defects"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014052", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014052", 
            "name": "myasthenic syndrome, congenital, 8; CMS8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014052", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014052", 
            "name": "myasthenic syndrome, congenital, type 8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014052", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014052", 
            "name": "congenital myasthenic syndrome due to agrin deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014052", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014052", 
            "name": "AGRN congenital myasthenic syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014052", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014052", 
            "name": "congenital myasthenic syndrome caused by mutation in AGRN"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014052", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014052", 
            "name": "myasthenic syndrome, congenital, 8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014052", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014052", 
            "name": "myasthenic syndrome, congenital, due to agrin deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014052", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014052", 
            "name": "CMS8"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110657", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110657", 
            "name": "congenital myasthenic syndrome 8 with pre- and postsynaptic defects"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110657", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110657", 
            "name": "CMS8"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110657", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110657", 
            "name": "congenital myasthenic syndrome due to agrin deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110657", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110657", 
        "name": "congenital myasthenic syndrome 8"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0110657#disease-associations", 
            "id": "0110657", 
            "database": "Alliance of Genome Resources"
        }
    ]
}