{
  "id": 15895,
  "label": "developmental and epileptic encephalopathy, 41",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014916",
  "properties": {
    "xrefs": [
      "DOID:0080442",
      "GARD:0016190",
      "MEDGEN:934684",
      "OMIM:617105",
      "UMLS:C4310717"
    ],
    "synonyms": [
      "DEE41",
      "EIEE41",
      "SLC1A2 early infantile epileptic encephalopathy",
      "developmental and epileptic encephalopathy 41",
      "developmental and epileptic encephalopathy, 41",
      "early infantile epileptic encephalopathy caused by mutation in SLC1A2",
      "epileptic encephalopathy, early infantile, 41",
      "epileptic encephalopathy, early infantile, 41; EIEE41",
      "epileptic encephalopathy, early infantile, type 41"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18615,
      "label": "undetermined early-onset epileptic encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19084,
        19723,
        19724,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015028",
          "MEDGEN:1826068",
          "Orphanet:442835",
          "UMLS:C5680057"
        ],
        "synonyms": [
          "non-specific early-onset epileptic encephalopathy",
          "undetermined EOEE",
          "undetermined early-onset epileptic encephalopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities."
      },
      "child_count": 64,
      "reference_id": "MONDO:0018614"
    },
    {
      "id": 24182,
      "label": "neonatal-onset developmental and epileptic encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026229"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur."
      },
      "child_count": 20,
      "reference_id": "MONDO:0100455"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18615,
      "label": "undetermined early-onset epileptic encephalopathy"
    },
    {
      "id": 24182,
      "label": "neonatal-onset developmental and epileptic encephalopathy"
    },
    {
      "id": 25075,
      "label": "early-infantile DEE"
    }
  ]
}