{
  "id": 24340,
  "label": "developmental and epileptic encephalopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100620",
  "properties": {
    "xrefs": [
      "GARD:0027373",
      "MEDGEN:1830477",
      "UMLS:C5779964"
    ],
    "synonyms": [
      "DEE",
      "developmental and epileptic encephalopathy",
      "infantile spasm"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An epilepsy associated with developmental impairment that may be due to either the underlying etiology or the superimposed epileptic activity, or both."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 6761,
      "label": "epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1826",
          "EFO:0000474",
          "ICD10CM:G40",
          "ICD10WHO:G40",
          "ICD9:345",
          "ICD9:345.8",
          "ICD9:345.80",
          "ICD9:345.9",
          "ICD9:345.90",
          "ICD9:345.91",
          "MEDGEN:4506",
          "MESH:D004827",
          "NCIT:C3020",
          "SCTID:84757009",
          "UMLS:C0014544",
          "birnlex:12718"
        ],
        "synonyms": [
          "epilepsy",
          "seizure disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions."
      },
      "child_count": 13,
      "reference_id": "MONDO:0005027"
    },
    {
      "id": 23791,
      "label": "complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017965",
          "MEDGEN:1800189",
          "Orphanet:528084",
          "UMLS:C5568766"
        ],
        "synonyms": [
          "complex neurodevelopmental disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy)."
      },
      "child_count": 15,
      "reference_id": "MONDO:0100038"
    }
  ],
  "children": [
    {
      "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": 24341,
      "label": "acquired developmental and epileptic encephalopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24340
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027374"
        ],
        "synonyms": [
          "acquired DEE"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of developmental and epileptic encephalopathy that is acquired during the lifetime of the individual."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100621"
    },
    {
      "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": 6761,
      "label": "epilepsy"
    },
    {
      "id": 23791,
      "label": "complex neurodevelopmental disorder"
    }
  ]
}