{
  "id": 15593,
  "label": "developmental and epileptic encephalopathy, 30",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014595",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 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": 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": 18257,
      "label": "infantile spasms"
    },
    {
      "id": 23814,
      "label": "genetic developmental and epileptic encephalopathy"
    },
    {
      "id": 25075,
      "label": "early-infantile DEE"
    }
  ]
}