{
  "id": 25075,
  "label": "early-infantile DEE",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800491",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 24340,
      "label": "developmental and epileptic encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6761,
        23791
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100620"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 13304,
      "label": "developmental and epileptic encephalopathy, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23814,
        25075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080440",
          "GARD:0015456",
          "MEDGEN:1801135",
          "OMIM:609304",
          "UMLS:C5574665"
        ],
        "synonyms": [
          "DEE3",
          "EIEE3",
          "SLC25A22 early infantile epileptic encephalopathy",
          "developmental and epileptic encephalopathy 3",
          "early infantile epileptic encephalopathy caused by mutation in SLC25A22",
          "epileptic encephalopathy, early infantile, 3",
          "epileptic encephalopathy, early infantile, type 3"
        ],
        "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 SLC25A22 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012245"
    },
    {
      "id": 15593,
      "label": "developmental and epileptic encephalopathy, 30",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18257,
        23814,
        25075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080465",
          "GARD:0016093",
          "MEDGEN:898954",
          "OMIM:616341",
          "UMLS:C4225360"
        ],
        "synonyms": [
          "DEE30",
          "EIEE30",
          "SIK1 early infantile epileptic encephalopathy",
          "developmental and epileptic encephalopathy 30",
          "early infantile epileptic encephalopathy caused by mutation in SIK1",
          "epileptic encephalopathy, early infantile, 30",
          "epileptic encephalopathy, early infantile, type 30"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "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 SIK1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014595"
    },
    {
      "id": 15895,
      "label": "developmental and epileptic encephalopathy, 41",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18615,
        24182,
        25075
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014916"
    }
  ],
  "roots": [
    {
      "id": 24340,
      "label": "developmental and epileptic encephalopathy"
    },
    {
      "id": 25074,
      "label": "neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy"
    }
  ]
}