{
    "disease_id": "DOID:0080686", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014383", 
            "name": "myopathy, tubular aggregate, 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014383", 
            "name": "ORAI1 tubular aggregate myopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014383", 
            "name": "myopathy, tubular aggregate, 2; TAM2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014383", 
            "name": "TAM2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014383", 
            "name": "tubular aggregate myopathy caused by mutation in ORAI1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014383", 
            "name": "myopathy, tubular aggregate, type 2"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080686", 
        "description": "A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080686", 
        "name": "tubular aggregate myopathy 2"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080686#disease-associations", 
            "id": "0080686", 
            "database": "Alliance of Genome Resources"
        }
    ]
}