{
  "id": 29316,
  "label": "GRIN2A-related self-limited epilepsy with centrotemporal spikes",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1060142",
  "properties": {
    "xrefs": [
      "GARD:0028160"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any self-limited epilepsy with centrotemporal spikes in which the cause of the disease is a variation in GRIN2A gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8695,
      "label": "self-limited epilepsy with centrotemporal spikes",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17942,
        25086
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3329",
          "GARD:0010287",
          "ICD9:345.80",
          "MEDGEN:138210",
          "NCIT:C116538",
          "OMIM:117100",
          "Orphanet:1945",
          "SCTID:44145005",
          "UMLS:C0376532",
          "icd11.foundation:1046279423"
        ],
        "synonyms": [
          "BCECTS",
          "BECRS",
          "BECTS",
          "BRE",
          "Rolandic epilepsy",
          "benign Rolandic epilepsy",
          "benign Rolandic epilepsy (BRE)",
          "benign Rolandic epilepsy of childhood (BREC)",
          "benign childhood epilepsy with centrotemporal spikes",
          "benign epilepsy of childhood with centrotemporal spikes",
          "benign epilepsy with centrotemporal spikes",
          "benign familial epilepsy of childhood with rolandic spikes",
          "centralopathic epilepsy",
          "centrotemporal epilepsy",
          "centrotemporal epilepsy, isolated cases",
          "childhood epilepsy with centrotemporal spikes",
          "temporal-central focal epilepsy",
          "benign epilepsy of childhood with centrotemporal spikes (BECCT)",
          "benign epilepsy with centro-temporal spikes (BECTS)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A childhood-onset epilepsy syndrome that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit."
      },
      "child_count": 2,
      "reference_id": "MONDO:0007295"
    },
    {
      "id": 29313,
      "label": "GRIN2A-related complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29312
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028157"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of neurological and neurodevelopmental disorders caused by variants in the GRIN2A gene, characterized by a broad spectrum of symptoms including developmental delay or intellectual disability, epilepsy, speech and language impairments, movement disorders, and neuropsychiatric features."
      },
      "child_count": 5,
      "reference_id": "MONDO:1060139"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8695,
      "label": "self-limited epilepsy with centrotemporal spikes"
    },
    {
      "id": 29313,
      "label": "GRIN2A-related complex neurodevelopmental disorder"
    }
  ]
}