{
  "id": 25077,
  "label": "familial mesial temporal lobe epilepsy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800493",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 6841,
      "label": "temporal lobe epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17942
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3328",
          "EFO:0000773",
          "GARD:0005135",
          "MEDGEN:4990",
          "MESH:D004833",
          "NCIT:C177244",
          "OMIMPS:600512",
          "Orphanet:98819",
          "SCTID:193000002",
          "SCTID:783739005",
          "UMLS:C0014556",
          "birnlex:12733"
        ],
        "synonyms": [
          "epilepsy of temporal lobe",
          "epilepsy, familial temporal lobe",
          "familial temporal lobe epilepsy syndrome",
          "temporal lobe epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)"
      },
      "child_count": 6,
      "reference_id": "MONDO:0005115"
    },
    {
      "id": 25076,
      "label": "variable-age onset focal epilepsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7064,
        24339
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027391"
        ],
        "synonyms": [
          "VAOFAS"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An epilepsy syndrome characterized by focal seizures where age at seizure onset varies."
      },
      "child_count": 8,
      "reference_id": "MONDO:0800492"
    }
  ],
  "children": [
    {
      "id": 13745,
      "label": "familial temporal lobe epilepsy 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25077
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060750",
          "GARD:0018279",
          "MEDGEN:368898",
          "MESH:C566903",
          "OMIM:611630",
          "UMLS:C1968848"
        ],
        "synonyms": [
          "FMTLE",
          "familial mesial temporal lobe epilepsy",
          "ETL3",
          "epilepsy, familial temporal lobe, 3",
          "familial temporal lobe epilepsy type 3",
          "epilepsy, familial mesial temporal lobe"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012705"
    },
    {
      "id": 14760,
      "label": "familial temporal lobe epilepsy 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25077
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013741"
    },
    {
      "id": 15312,
      "label": "familial temporal lobe epilepsy 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25077
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060749",
          "GARD:0018281",
          "MEDGEN:816650",
          "OMIM:615697",
          "UMLS:C3810320"
        ],
        "synonyms": [
          "ETL6",
          "familial temporal lobe epilepsy type 6",
          "epilepsy, familial temporal lobe, 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014308"
    }
  ],
  "roots": [
    {
      "id": 6841,
      "label": "temporal lobe epilepsy"
    },
    {
      "id": 25076,
      "label": "variable-age onset focal epilepsy syndrome"
    }
  ]
}