{
    "disease_id": "DOID:0080686",
    "recommended_name": {
        "id": "DOID:0080686",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080686",
        "name": "tubular aggregate myopathy 2",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0014383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014383",
            "name": "myopathy, tubular aggregate, 2",
            "description": "Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene."
        },
        {
            "id": "MONDO:0014383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014383",
            "name": "ORAI1 tubular aggregate myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014383",
            "name": "myopathy, tubular aggregate, 2",
            "description": ""
        },
        {
            "id": "MONDO:0014383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014383",
            "name": "myopathy, tubular aggregate, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014383",
            "name": "tubular aggregate myopathy caused by mutation in ORAI1",
            "description": ""
        },
        {
            "id": "MONDO:0014383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014383",
            "name": "TAM2",
            "description": ""
        },
        {
            "id": "MIM:615883",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615883",
            "name": "Myopathy, tubular aggregate, 2",
            "description": "Myopathy, tubular aggregate, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080686"
    ],
    "unlinked_id_list": []
}