{
  "id": 21477,
  "label": "myopathy, tubular aggregate, 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024531",
  "properties": {
    "xrefs": [
      "GARD:0025414",
      "MEDGEN:860163",
      "OMIM:160565",
      "UMLS:C4011726"
    ],
    "synonyms": [
      "STIM1 tubular aggregate myopathy",
      "myopathy, tubular aggregate, 1",
      "tubular aggregate myopathy caused by mutation in STIM1",
      "TAM1",
      "myopathy, tubular aggregate",
      "tubular aggregate myopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 9374,
      "label": "tubular aggregate myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080089",
          "GARD:0003884",
          "MEDGEN:98050",
          "OMIMPS:160565",
          "Orphanet:2593",
          "UMLS:C0410207"
        ],
        "synonyms": [
          "myopathy, tubular aggregate, type 1",
          "tubular aggregate myopathy",
          "TAM1",
          "myopathy, tubular aggregate, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported."
      },
      "child_count": 2,
      "reference_id": "MONDO:0008051"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9374,
      "label": "tubular aggregate myopathy"
    }
  ]
}