{
  "id": 25084,
  "label": "childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800500",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 19725,
      "label": "childhood-onset epilepsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16436
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019437",
          "MEDGEN:1843031",
          "Orphanet:98259",
          "UMLS:C5681526"
        ],
        "synonyms": [
          "childhood epilepsy syndrome",
          "childhood-onset epilepsy syndrome",
          "epilepsy syndrome of childhood",
          "paediatric epilepsy syndrome",
          "pediatric epilepsy syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A epilepsy syndrome that occurs during childhood."
      },
      "child_count": 16,
      "reference_id": "MONDO:0020072"
    }
  ],
  "children": [
    {
      "id": 15629,
      "label": "epilepsy with myoclonic atonic seizures",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        24270,
        25084
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060475",
          "GARD:0016108",
          "ICD9:345.10",
          "MEDGEN:98284",
          "OMIM:616421",
          "Orphanet:1942",
          "SCTID:230421008",
          "UMLS:C0393702",
          "icd11.foundation:951920505"
        ],
        "synonyms": [
          "Doose syndrome",
          "EMAS",
          "EMAtS",
          "MAE",
          "Myoclonic Atonic Epilepsy",
          "epilepsy with myoclonic atonic seizures",
          "epilepsy with myoclonic-astatic seizures",
          "epilepsy with myoclonic-atonic seizures",
          "myoclonic atonic epilepsy",
          "myoclonic-astatic epilepsy in early childhood",
          "myoclonic-atonic epilepsy",
          "epilepsy with myoclono-astatic crisis",
          "myoclonic astatic epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has material basis in heterozygous mutation in the SLC6A1 gene on chromosome 3p25."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014633"
    },
    {
      "id": 16385,
      "label": "febrile infection-related epilepsy syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25084
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0011005",
          "MEDGEN:1381987",
          "NANDO:1200600",
          "NANDO:2100249",
          "NANDO:2200903",
          "NORD:1889",
          "Orphanet:163703",
          "SCTID:725413002",
          "UMLS:C4049262",
          "icd11.foundation:1316435973"
        ],
        "synonyms": [
          "AERRPS",
          "DESC syndrome",
          "FIRES",
          "Febrile Infection-Related Epilepsy Syndrome (FIRES)",
          "acute encephalitis with refractory repetitive partial seizures",
          "acute non-herpetic encephalitis with severe refractory status epilepticus",
          "devastating epileptic encephalopathy in school-aged children",
          "fever-induced refractory epileptic encephalopathy in school-aged children",
          "idiopathic catastrophic epileptic encephalopathy",
          "severe refractory status epilepticus owing to presumed encephalitis",
          "status epilepticus owing to presumed encephalitis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, potentially fatal, epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE), and requires a preceding febrile infection as a mandatory feature."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015584"
    },
    {
      "id": 17029,
      "label": "Lennox-Gastaut syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        23814,
        25084
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050561",
          "GARD:0009912",
          "ICD10CM:G40.81",
          "MEDGEN:116044",
          "MESH:D065768",
          "MedDRA:10048816",
          "NANDO:1200591",
          "NANDO:2200879",
          "NCIT:C84816",
          "NORD:1358",
          "OMIM:606369",
          "Orphanet:2382",
          "SCTID:230418006",
          "UMLS:C0238111",
          "icd11.foundation:651135242"
        ],
        "synonyms": [
          "LGS",
          "encephalopathy of childhood",
          "epileptic encephalopathy Lennox-Gastaut type",
          "macrocephaly and epileptic encephalopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies."
      },
      "child_count": 9,
      "reference_id": "MONDO:0016532"
    },
    {
      "id": 19307,
      "label": "idiopathic hemiconvulsion-hemiplegia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19724,
        24405,
        25084
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019085",
          "MEDGEN:639806",
          "NANDO:1200596",
          "Orphanet:86908",
          "SCTID:230407006",
          "UMLS:C0549118"
        ],
        "synonyms": [
          "HHE syndrome",
          "IHHS",
          "hemiconvulsion-hemiplegia-epilepsy syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019485"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 19725,
      "label": "childhood-onset epilepsy syndrome"
    }
  ]
}