{
    "disease_id": "DOID:0060346", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009722", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009722", 
            "name": "congenital myopathy-cleft palate-malignant hyperthermia syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009722", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009722", 
            "name": "myopathy, congenital, with cleft palate and malignant hyperthermia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009722", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009722", 
            "name": "congenital myopathy - cleft palate - malignant hyperthermia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009722", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009722", 
            "name": "NAM"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009722", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009722", 
            "name": "congenital myopathy cleft palate and malignant hyperthermia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009722", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009722", 
            "name": "Native American myopathy; NAM"
        }, 
        {
            "url": "https://www.omim.org/entry/255995", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:255995", 
            "name": "Myopathy, congenital, Bailey-Bloch"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060346", 
        "description": "A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060346", 
        "name": "Native American myopathy"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/255995", 
            "id": "255995", 
            "database": "MIM"
        }
    ]
}