{
  "id": 13650,
  "label": "episodic kinesigenic dyskinesia 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012603",
  "properties": {
    "xrefs": [
      "DOID:0090054",
      "GARD:0015506",
      "MEDGEN:410022",
      "MESH:C567026",
      "NANDO:1200532",
      "OMIM:611031",
      "UMLS:C1970238"
    ],
    "synonyms": [
      "episodic kinesigenic dyskinesia 2",
      "episodic kinesigenic dyskinesia type 2",
      "EKD2",
      "dystonia 19"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 23291,
      "label": "episodic kinesigenic dyskinesia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16273
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008721",
          "MEDGEN:358268",
          "OMIMPS:128200",
          "Orphanet:98809",
          "UMLS:C1868682"
        ],
        "synonyms": [
          "EKD",
          "familial PKD",
          "familial paroxysmal kinesigenic dyskinesia",
          "paroxysmal kinesigenic choreathetosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements."
      },
      "child_count": 3,
      "reference_id": "MONDO:0044202"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 23291,
      "label": "episodic kinesigenic dyskinesia"
    }
  ]
}