{
  "id": 23884,
  "label": "Dravet syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100135",
  "properties": {
    "xrefs": [
      "DOID:0060171",
      "DOID:0080422",
      "GARD:0010430",
      "ICD10CM:G40.83",
      "ICD9:345.10",
      "MEDGEN:148243",
      "NANDO:1200587",
      "NANDO:2200877",
      "NCIT:C116573",
      "NORD:1061",
      "SCTID:230437002",
      "UMLS:C0751122",
      "icd11.foundation:1255654700"
    ],
    "synonyms": [
      "DS",
      "Dravet",
      "Dravet syndrome",
      "SME",
      "SMEB",
      "myoclonic epilepsy, severe, of infancy",
      "severe myoclonic epilepsy of infancy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A."
  },
  "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"
    },
    {
      "id": 25074,
      "label": "neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23780
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027298"
        ],
        "synonyms": [
          "NIE-SDE"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neonatal/infantile epilepsy syndrome characterized by the onset of non-self-limiting seizures and developmental regression or delay in infants/neonates. This condition is typically caused by genetic mutations that disrupt normal brain development, affecting both cognitive and motor development that is not responsive to typical seizure treatments."
      },
      "child_count": 4,
      "reference_id": "MONDO:0800490"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 23814,
      "label": "genetic developmental and epileptic encephalopathy"
    },
    {
      "id": 25074,
      "label": "neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy"
    }
  ]
}