{
    "disease_id": "DOID:0110660", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012518", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012518", 
            "name": "congenital myasthenia 12 with tubular aggregates"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012518", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012518", 
            "name": "myasthenic syndrome, congenital, 12"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012518", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012518", 
            "name": "GFPT1 congenital myasthenic syndromes with glycosylation defect"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012518", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012518", 
            "name": "congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012518", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012518", 
            "name": "myasthenic syndrome, congenital, with tubular aggregates 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012518", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012518", 
            "name": "congenital myasthenic syndrome type 12"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012518", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012518", 
            "name": "myasthenic syndrome, congenital, 12; CMS12"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012518", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012518", 
            "name": "CMS12"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012518", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012518", 
            "name": "myasthenic syndrome, congenital, type 12"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110660", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110660", 
            "name": "CMS12"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110660", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110660", 
            "name": "congenital myasthenia 12 with tubular aggregates"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110660", 
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110660", 
        "name": "congenital myasthenic syndrome 12"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0110660#disease-associations", 
            "id": "0110660", 
            "database": "Alliance of Genome Resources"
        }
    ]
}