{
  "id": 14760,
  "label": "familial temporal lobe epilepsy 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013741",
  "properties": {
    "xrefs": [
      "DOID:0060752",
      "GARD:0018280",
      "MEDGEN:482360",
      "OMIM:614417",
      "UMLS:C3280730"
    ],
    "synonyms": [
      "ETL5",
      "epilepsy, familial temporal lobe, type 5",
      "familial temporal lobe epilepsy type 5",
      "epilepsy, familial temporal lobe, 5"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 25077,
      "label": "familial mesial temporal lobe epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6841,
        25076
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027392",
          "Orphanet:163717"
        ],
        "synonyms": [
          "FMTLE"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A focal epilepsy syndrome where the age at onset is typically in adolescence or adulthood. Affected individuals have focal aware seizures with mesial temporal lobe features, especially prominent déjà vu. Most patients have a normal MRI, and seizures respond to treatment. A subgroup is recognised that have antecedent febrile seizures, hippocampal atrophy, and drug resistant seizures. Direct questioning of relatives may be required to identify this familial epilepsy syndrome, as many individuals consider their déjà vu experiences as mild and they may not have been diagnosed as seizures."
      },
      "child_count": 6,
      "reference_id": "MONDO:0800493"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 25077,
      "label": "familial mesial temporal lobe epilepsy"
    }
  ]
}