{
  "id": 29314,
  "label": "GRIN2A-related developmental and/or epileptic encephalopathy with spike-wave activation in sleep",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1060140",
  "properties": {
    "xrefs": [
      "GARD:0028158"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any developmental and/or epileptic encephalopathy with spike-wave activation in sleep in which the cause of the disease is a variation in GRIN2A gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 25085,
      "label": "developmental and/or epileptic encephalopathy with spike-wave activation in sleep",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        25084
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027304",
          "MEDGEN:1790601",
          "Orphanet:725",
          "UMLS:C5552731"
        ],
        "synonyms": [
          "CSWS",
          "CSWSS syndrome",
          "DEE-SWAS",
          "EE-SWAS",
          "EESWAS",
          "ESES with language regression",
          "LK syndrome",
          "LKS",
          "continuous slow spike and wave of sleep",
          "continuous spike-wave during slow sleep syndrome",
          "continuous spike-wave in sleep",
          "continuous spikes and waves during sleep",
          "continuous spikes and waves during slow-wave sleep",
          "developmental and epileptic encephalopathy with spike-wave activation in sleep",
          "electrical status epilepticus of sleep",
          "electrographic status epilepticus in sleep",
          "electrographic status epilepticus of sleep",
          "epileptic aphasia",
          "epileptic encephalopathy with continuous spike-and-wave during slow sleep",
          "epileptic encephalopathy with spike and wave activation in sleep",
          "epileptic encephalopathy with spike-and-wave activation in sleep",
          "eses index"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development. This syndrome encompasses the previous syndromes epileptic encephalopathy with continuous spike-wave in sleep and atypical childhood epilepsy with centrotemporal spikes (also previously known as pseudo-Lennox syndrome and atypical benign partial epilepsy)."
      },
      "child_count": 2,
      "reference_id": "MONDO:0800501"
    },
    {
      "id": 29313,
      "label": "GRIN2A-related complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29312
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028157"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of neurological and neurodevelopmental disorders caused by variants in the GRIN2A gene, characterized by a broad spectrum of symptoms including developmental delay or intellectual disability, epilepsy, speech and language impairments, movement disorders, and neuropsychiatric features."
      },
      "child_count": 5,
      "reference_id": "MONDO:1060139"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 25085,
      "label": "developmental and/or epileptic encephalopathy with spike-wave activation in sleep"
    },
    {
      "id": 29313,
      "label": "GRIN2A-related complex neurodevelopmental disorder"
    }
  ]
}