{
  "id": 15976,
  "label": "developmental and epileptic encephalopathy, 48",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015000",
  "properties": {
    "xrefs": [
      "DOID:0080448",
      "GARD:0016218",
      "MEDGEN:934604",
      "OMIM:617276",
      "UMLS:C4310637"
    ],
    "synonyms": [
      "AP3B2 early infantile epileptic encephalopathy",
      "DEE48",
      "EIEE48",
      "developmental and epileptic encephalopathy 48",
      "early infantile epileptic encephalopathy caused by mutation in AP3B2",
      "epileptic encephalopathy, early infantile, 48",
      "epileptic encephalopathy, early infantile, 48; EIEE48",
      "epileptic encephalopathy, early infantile, type 48"
    ],
    "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 AP3B2 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"
    }
  ]
}