{
  "id": 14999,
  "label": "developmental and epileptic encephalopathy, 14",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013989",
  "properties": {
    "xrefs": [
      "DOID:0080439",
      "GARD:0015886",
      "MEDGEN:767109",
      "OMIM:614959",
      "UMLS:C3554195"
    ],
    "synonyms": [
      "KCNT1-related epilepsy",
      "DEE14",
      "EIEE14",
      "KCNT1 early infantile epileptic encephalopathy",
      "developmental and epileptic encephalopathy 14",
      "early infantile epileptic encephalopathy caused by mutation in KCNT1",
      "epileptic encephalopathy, early infantile, 14",
      "epileptic encephalopathy, early infantile, type 14"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 23814,
      "label": "genetic developmental and epileptic encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24226,
        24340
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112202",
          "GARD:0009255",
          "ICD9:345.10",
          "NANDO:1200593",
          "NCIT:C122814",
          "OMIMPS:308350"
        ],
        "synonyms": [
          "developmental and epileptic encephalopathy",
          "hereditary developmental and epileptic encephalopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity."
      },
      "child_count": 210,
      "reference_id": "MONDO:0100062"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 23814,
      "label": "genetic developmental and epileptic encephalopathy"
    }
  ]
}