{
  "id": 25085,
  "label": "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:0800501",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 25084,
      "label": "childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19725
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027303"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A childhood-onset epilepsy syndrome where the onset of the condition includes manifestations of cognitive, neurological, or psychiatric impairment, stagnation, or regression, due directly to the underlying etiology. In contrast, an epileptic encephalopathy (EE) is present when the encephalopathy is caused by the epileptic activity. The term developmental and epileptic encephalopathy (DEE) is used when both factors contribute to the patient’s condition."
      },
      "child_count": 5,
      "reference_id": "MONDO:0800500"
    }
  ],
  "children": [
    {
      "id": 29314,
      "label": "GRIN2A-related developmental and/or epileptic encephalopathy with spike-wave activation in sleep",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25085,
        29313
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:1060140"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 25084,
      "label": "childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy"
    }
  ]
}