{
  "id": 19664,
  "label": "rippling muscle disease 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019947",
  "properties": {
    "xrefs": [
      "DOID:0060255",
      "GARD:0009164",
      "MEDGEN:371357",
      "NCIT:C148325",
      "OMIM:606072",
      "Orphanet:97238",
      "UMLS:C1832560"
    ],
    "synonyms": [
      "CAV3 autosomal dominant limb-girdle muscular dystrophy",
      "CAV3 rippling muscle disease",
      "LGMD1C",
      "RMD2",
      "autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3",
      "limb-girdle muscular dystrophy due to caveolin-3 deficiency",
      "muscular dystrophy limb-girdle type IC",
      "rippling muscle disease 2",
      "rippling muscle disease caused by mutation in CAV3",
      "rippling muscle disease type 2",
      "limb-girdle muscular dystrophy type 1C",
      "muscular dystrophy, limb-girdle, type 1C",
      "muscular dystrophy, limb-girdle, type IC"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 20111,
      "label": "inherited rippling muscle disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        12729,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025217",
          "MedDRA:10069417"
        ],
        "synonyms": [
          "RMD",
          "rippling muscle disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase."
      },
      "child_count": 4,
      "reference_id": "MONDO:0020704"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 20111,
      "label": "inherited rippling muscle disease"
    }
  ]
}