{
  "id": 15921,
  "label": "developmental and epileptic encephalopathy, 45",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014942",
  "properties": {
    "xrefs": [
      "DOID:0080428",
      "GARD:0016203",
      "MEDGEN:934658",
      "OMIM:617153",
      "UMLS:C4310691"
    ],
    "synonyms": [
      "DEE45",
      "EIEE45",
      "GABRB1 early infantile epileptic encephalopathy",
      "developmental and epileptic encephalopathy 45",
      "early infantile epileptic encephalopathy caused by mutation in GABRB1",
      "epileptic encephalopathy, early infantile, 45",
      "epileptic encephalopathy, early infantile, 45; EIEE45",
      "epileptic encephalopathy, early infantile, type 45"
    ],
    "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 GABRB1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18615,
      "label": "undetermined early-onset epileptic encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19084,
        19723,
        19724,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015028",
          "MEDGEN:1826068",
          "Orphanet:442835",
          "UMLS:C5680057"
        ],
        "synonyms": [
          "non-specific early-onset epileptic encephalopathy",
          "undetermined EOEE",
          "undetermined early-onset epileptic encephalopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities."
      },
      "child_count": 64,
      "reference_id": "MONDO:0018614"
    },
    {
      "id": 24182,
      "label": "neonatal-onset developmental and epileptic encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026229"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur."
      },
      "child_count": 20,
      "reference_id": "MONDO:0100455"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18615,
      "label": "undetermined early-onset epileptic encephalopathy"
    },
    {
      "id": 24182,
      "label": "neonatal-onset developmental and epileptic encephalopathy"
    }
  ]
}