{
  "id": 23780,
  "label": "neonatal/infantile epilepsy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100022",
  "properties": {
    "xrefs": [
      "Orphanet:693802"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An epilepsy sydrome that has an onset during the neonatal or infantile stage of life."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 16436,
      "label": "epilepsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6761
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020083",
          "MEDGEN:1371141",
          "Orphanet:166463",
          "UMLS:C4505072"
        ],
        "synonyms": [
          "epileptic syndrome",
          "syndromic epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A syndrome that has a characteristic cluster of clinical features and/or lectroencephalographic (EEG) findings that reflect underlying epileptic activity. It is often associated with a range of other health issues, including cognitive impairment, intellectual disability, physical gross motor and fine motor delays, speech and language deficits, and impacts to other bodily functions and may be supported by specific etiological findings—such as structural, genetic, metabolic, immune, or infectious causes or have an unknown etiology."
      },
      "child_count": 8,
      "reference_id": "MONDO:0015650"
    }
  ],
  "children": [
    {
      "id": 23784,
      "label": "myoclonic encephalopathy in non-progressive disorder",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23780
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100026"
    },
    {
      "id": 25072,
      "label": "neonatal/infantile-onset self-limited epilepsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23780
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027296"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An epilepsy syndrome characterized by the onset of seizures in neonates/infants where there is a high likelihood of spontaneously remitting at a predictable age."
      },
      "child_count": 5,
      "reference_id": "MONDO:0800488"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 16436,
      "label": "epilepsy syndrome"
    }
  ]
}