{
  "id": 16001,
  "label": "developmental and epileptic encephalopathy, 51",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015025",
  "properties": {
    "xrefs": [
      "DOID:0080433",
      "GARD:0025055",
      "MEDGEN:1372686",
      "OMIM:617339",
      "UMLS:C4479208"
    ],
    "synonyms": [
      "DEE51",
      "EIEE51",
      "MDH2 early infantile epileptic encephalopathy",
      "developmental and epileptic encephalopathy 51",
      "early infantile epileptic encephalopathy caused by mutation in MDH2",
      "epileptic encephalopathy, early infantile, 51",
      "epileptic encephalopathy, early infantile, 51; EIEE51",
      "epileptic encephalopathy, early infantile, type 51"
    ],
    "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 MDH2 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"
    }
  ]
}