{
  "id": 11778,
  "label": "developmental and epileptic encephalopathy, 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010632",
  "properties": {
    "xrefs": [
      "DOID:0080468",
      "GARD:0015298",
      "MEDGEN:483052",
      "OMIM:308350",
      "UMLS:C3463992"
    ],
    "synonyms": [
      "ARX early infantile epileptic encephalopathy",
      "DEE1",
      "EIEE1",
      "developmental and epileptic encephalopathy 1, X-linked recessive",
      "early infantile epileptic encephalopathy caused by mutation in ARX",
      "early infantile epileptic encephalopathy caused by mutation in arx",
      "epileptic encephalopathy, early infantile, 1",
      "epileptic encephalopathy, early infantile, type 1",
      "Ohtahara syndrome, X-linked",
      "West syndrome, X-linked",
      "XMESID",
      "infantile epileptic-dyskinetic encephalopathy",
      "infantile spasm syndrome, X-linked 1"
    ],
    "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 ARX 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18257,
      "label": "infantile spasms"
    },
    {
      "id": 23814,
      "label": "genetic developmental and epileptic encephalopathy"
    }
  ]
}