{
  "id": 24080,
  "label": "episodic kinesigenic dyskinesia 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100352",
  "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"
      }
    ]
  },
  "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"
    },
    {
      "id": 24281,
      "label": "PRRT2-associated paroxysmal movement disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7073,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028000"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of rare movement and seizure disorders caused by changes (disease-causing variants or mutations) in the PRRT2 gene. They include a spectrum of specific disorders including paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizure conditions, such as paroxysmal torticollis, episodic ataxia and familial paroxysmal non-kinesigenic dyskinesia. It’s important to note that these disorders can also have different genetic causes."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100556"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 23291,
      "label": "episodic kinesigenic dyskinesia"
    },
    {
      "id": 24281,
      "label": "PRRT2-associated paroxysmal movement disorder"
    }
  ]
}