{
  "id": 18276,
  "label": "progressive myoclonic epilepsy with dystonia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018126",
  "properties": {
    "xrefs": [
      "GARD:0017522",
      "MEDGEN:1642042",
      "Orphanet:352596",
      "SCTID:763349002",
      "UMLS:C4706413"
    ],
    "synonyms": [
      "PMED",
      "progressive myoclonus epilepsy with dystonia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19724,
      "label": "infantile epilepsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16436
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019436",
          "Orphanet:98258"
        ],
        "synonyms": [
          "epilepsy syndrome of infancy",
          "infantile epilepsy syndrome",
          "infantile onset epilepsy syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An epilepsy syndrome that occurs between 28 days to one year of life."
      },
      "child_count": 9,
      "reference_id": "MONDO:0020071"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19724,
      "label": "infantile epilepsy syndrome"
    }
  ]
}