{
  "id": 16207,
  "label": "perioral myoclonia with absences",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015345",
  "properties": {
    "xrefs": [
      "GARD:0019915",
      "MEDGEN:1637328",
      "Orphanet:139426",
      "SCTID:766815007",
      "UMLS:C4707846",
      "icd11.foundation:1067045592"
    ],
    "synonyms": [
      "POMA"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19725,
      "label": "childhood-onset epilepsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16436
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019437",
          "MEDGEN:1843031",
          "Orphanet:98259",
          "UMLS:C5681526"
        ],
        "synonyms": [
          "childhood epilepsy syndrome",
          "childhood-onset epilepsy syndrome",
          "epilepsy syndrome of childhood",
          "paediatric epilepsy syndrome",
          "pediatric epilepsy syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A epilepsy syndrome that occurs during childhood."
      },
      "child_count": 16,
      "reference_id": "MONDO:0020072"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19725,
      "label": "childhood-onset epilepsy syndrome"
    }
  ]
}