{
  "id": 20111,
  "label": "inherited rippling muscle disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020704",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 12729,
      "label": "rippling muscle disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024814",
          "ICD9:359.29",
          "MEDGEN:342944",
          "MedDRA:10069417",
          "SCTID:709281006",
          "UMLS:C1853698",
          "icd11.foundation:894802822"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch"
      },
      "child_count": 2,
      "reference_id": "MONDO:0011634"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026375"
        ],
        "synonyms": [
          "genetic muscle disease",
          "genetic muscle disorder",
          "genetic muscular disease",
          "genetic muscular disorder",
          "hereditary muscle disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 66,
      "reference_id": "MONDO:0700223"
    }
  ],
  "children": [
    {
      "id": 12002,
      "label": "rippling muscle disease 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20111
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070308",
          "GARD:0009165",
          "MEDGEN:324987",
          "OMIM:600332",
          "UMLS:C1838254"
        ],
        "synonyms": [
          "RMD1",
          "rippling muscle disease 1",
          "rippling muscle disease-1",
          "rippling muscle disease, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010868"
    },
    {
      "id": 19664,
      "label": "rippling muscle disease 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20111
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019947"
    }
  ],
  "roots": [
    {
      "id": 12729,
      "label": "rippling muscle disease"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder"
    }
  ]
}