{
  "id": 18356,
  "label": "infantile epileptic-dyskinetic encephalopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018226",
  "properties": {
    "xrefs": [
      "GARD:0017582",
      "MEDGEN:1637882",
      "MESH:C567924",
      "Orphanet:364063",
      "UMLS:C4552072"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19719,
      "label": "combined dystonia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019432",
          "MEDGEN:1842879",
          "Orphanet:98203",
          "UMLS:C5680244"
        ],
        "synonyms": [
          "dystonia-plus syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism)."
      },
      "child_count": 10,
      "reference_id": "MONDO:0020065"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19719,
      "label": "combined dystonia"
    }
  ]
}