{
  "id": 15850,
  "label": "developmental and epileptic encephalopathy, 38",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014868",
  "properties": {
    "xrefs": [
      "DOID:0080417",
      "GARD:0016175",
      "MEDGEN:934729",
      "OMIM:617020",
      "UMLS:C4310762"
    ],
    "synonyms": [
      "ARV1 early infantile epileptic encephalopathy",
      "DEE38",
      "EIEE38",
      "developmental and epileptic encephalopathy 38",
      "early infantile epileptic encephalopathy caused by mutation in ARV1",
      "epileptic encephalopathy, early infantile, 38",
      "epileptic encephalopathy, early infantile, 38; EIEE38",
      "epileptic encephalopathy, early infantile, type 38"
    ],
    "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 ARV1 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"
    }
  ]
}