{
  "id": 23291,
  "label": "episodic kinesigenic dyskinesia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0044202",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 16273,
      "label": "paroxysmal dyskinesia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16691
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018721",
          "ICD9:333.5",
          "MEDGEN:156242",
          "Orphanet:1431",
          "SCTID:49949003",
          "UMLS:C0752210"
        ],
        "synonyms": [
          "paroxysmal choreoathetosis",
          "paroxysmal dystonic choreoathetosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome)."
      },
      "child_count": 5,
      "reference_id": "MONDO:0015427"
    }
  ],
  "children": [
    {
      "id": 13650,
      "label": "episodic kinesigenic dyskinesia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23291
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012603"
    },
    {
      "id": 24080,
      "label": "episodic kinesigenic dyskinesia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23291,
        24281
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090053",
          "GARD:0026152",
          "ICD9:333.5",
          "MEDGEN:1636366",
          "MESH:C537180",
          "OMIM:128200",
          "SCTID:609221008",
          "UMLS:C4552000"
        ],
        "synonyms": [
          "PRRT2 episodic kinesigenic dyskinesia",
          "PxMD-PRRT2",
          "episodic kinesigenic dyskinesia 1",
          "episodic kinesigenic dyskinesia caused by mutation in PRRT2",
          "episodic kinesigenic dyskinesia type 1",
          "DYT-PRRT2",
          "EKD1",
          "dystonia 10",
          "dystonia, familial paroxysmal",
          "paroxysmal kinesigenic choreoathetosis",
          "paroxysmal kinesigenic dyskinesia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0100352"
    },
    {
      "id": 25506,
      "label": "episodic kinesigenic dyskinesia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23291
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060944",
          "GARD:0026726",
          "MEDGEN:1840916",
          "OMIM:620245",
          "UMLS:C5830280"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859380"
    }
  ],
  "roots": [
    {
      "id": 16273,
      "label": "paroxysmal dyskinesia"
    }
  ]
}