{
  "id": 25074,
  "label": "neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800490",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 23780,
      "label": "neonatal/infantile epilepsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16436
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100022"
    }
  ],
  "children": [
    {
      "id": 18257,
      "label": "infantile spasms",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        25074
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050562",
          "GARD:0007887",
          "ICD9:345.60",
          "ICD9:348.89",
          "MEDGEN:11519",
          "MedDRA:10021750",
          "NANDO:1200592",
          "NANDO:2200878",
          "NCIT:C84788",
          "NORD:1848",
          "Orphanet:3451",
          "Orphanet:697160",
          "SCTID:28055006",
          "UMLS:C0037769",
          "icd11.foundation:1023597213"
        ],
        "synonyms": [
          "IESS",
          "West syndrome",
          "West's syndrome",
          "infantile epileptic spasms syndrome",
          "infantile spasms",
          "infantile spasms syndrome",
          "intellectual disability-hypsarrhythmia syndrome",
          "X-linked infantile spasm syndrome",
          "X-linked infantile spasms",
          "tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare epilepsy syndrome characterized by onset of epileptic spasms in infants between 2 and 12 months of age, and rarely up to 24 months. Infants may have no antecedent history, or a history reflecting the underlying cause. The classical triad of epileptic spasms, hypsarrhythmia and developmental stagnation or regression is historically referred to as West syndrome."
      },
      "child_count": 16,
      "reference_id": "MONDO:0018097"
    },
    {
      "id": 23783,
      "label": "epilepsy of infancy with migrating focal seizures",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25074
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026016",
          "MEDGEN:1381392",
          "NANDO:1200595",
          "SCTID:733195008",
          "UMLS:C4518639",
          "icd11.foundation:1727727812"
        ],
        "synonyms": [
          "EIMFS"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "This syndrome is characterized by onset of refractory focal seizures in the first year of life, with associated severe encephalopathy. Focal seizures arise independently in both hemispheres and can migrate from one cortical region to another randomly but consecutively in the same seizure. Seizures are often prolonged with episodes of status epilepticus. Prognosis is poor with severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100025"
    },
    {
      "id": 23884,
      "label": "Dravet syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23814,
        25074
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100135"
    },
    {
      "id": 25075,
      "label": "early-infantile DEE",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24340,
        25074
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050709",
          "DOID:2481",
          "DOID:308",
          "GARD:0027299",
          "ICD9:345.6",
          "MEDGEN:97959",
          "MedDRA:10071545",
          "NCIT:C116593",
          "Orphanet:1934",
          "Orphanet:1935",
          "SCTID:230429005",
          "SCTID:44423001",
          "UMLS:C0393706",
          "icd11.foundation:1877241469"
        ],
        "synonyms": [
          "epileptic seizures - myoclonic",
          "epileptic seizures, myoclonic",
          "myoclonia epileptica",
          "myoclonic epilepsy",
          "myoclonic seizure",
          "myoclonic seizure disorder",
          "EIDEE",
          "EIEE",
          "EME",
          "Ohtahara syndrome",
          "early infantile epileptic encephalopathy",
          "early infantile epileptic encephalopathy with suppression-bursts",
          "early myoclonic encephalopathy",
          "early myoclonic encephalopathy with suppression-bursts",
          "early-infantile developmental and epileptic encephalopathy syndrome",
          "epileptic encephalopathy, early infantile",
          "epileptic encephalopathy, infantile",
          "infantile epileptic encephalopathy",
          "myoclonus epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neonatal/infantile epilepsy syndrome characterized by frequent drug-resistant seizures that begin ≤3 months of age, with abnormal interictal EEG and neurological examination. In up to 80% of patients, EIDEE is caused by an underlying structural, genetic, or metabolic reason."
      },
      "child_count": 6,
      "reference_id": "MONDO:0800491"
    }
  ],
  "roots": [
    {
      "id": 23780,
      "label": "neonatal/infantile epilepsy syndrome"
    }
  ]
}