{
  "id": 6841,
  "label": "temporal lobe epilepsy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005115",
  "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)"
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 17942,
      "label": "familial partial epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7064,
        19725,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002173",
          "MEDGEN:1826100",
          "Orphanet:309",
          "UMLS:C5680862"
        ],
        "synonyms": [
          "familial focal epilepsy",
          "hereditary partial epilepsy",
          "epilepsy, partial, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of partial epilepsy that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 21,
      "reference_id": "MONDO:0017704"
    }
  ],
  "children": [
    {
      "id": 13036,
      "label": "familial temporal lobe epilepsy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6841
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060755",
          "GARD:0024834",
          "MEDGEN:1683026",
          "MESH:C536956",
          "OMIM:608096",
          "UMLS:C4759869"
        ],
        "synonyms": [
          "ETL2",
          "familial temporal lobe epilepsy type 2",
          "Ftle",
          "epilepsy, familial temporal lobe",
          "epilepsy, familial temporal lobe, 2",
          "familial temporal lobe epilepsy",
          "temporal epilepsy, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011965"
    },
    {
      "id": 13746,
      "label": "familial temporal lobe epilepsy 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6841
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060753",
          "GARD:0015523",
          "MEDGEN:368897",
          "MESH:C566902",
          "OMIM:611631",
          "UMLS:C1968847"
        ],
        "synonyms": [
          "ETL4",
          "familial temporal lobe epilepsy type 4",
          "EPOLM",
          "epilepsy, familial temporal lobe, 4",
          "epilepsy, occipitotemporal lobe, and migraine with aura",
          "occipitotemporal lobe epilepsy and migraine with aura"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012706"
    },
    {
      "id": 15635,
      "label": "familial temporal lobe epilepsy 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6841
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060751",
          "GARD:0016112",
          "MEDGEN:907609",
          "OMIM:616436",
          "UMLS:C4225327"
        ],
        "synonyms": [
          "ETL7",
          "epilepsy, familial temporal lobe, type 7",
          "familial temporal lobe epilepsy type 7",
          "epilepsy, familial temporal lobe, 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014639"
    },
    {
      "id": 15646,
      "label": "familial temporal lobe epilepsy 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6841
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060754",
          "GARD:0016116",
          "MEDGEN:909158",
          "OMIM:616461",
          "UMLS:C4225318"
        ],
        "synonyms": [
          "ETL8",
          "epilepsy, familial temporal lobe, type 8",
          "familial temporal lobe epilepsy type 8",
          "epilepsy, familial temporal lobe, 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014650"
    },
    {
      "id": 24486,
      "label": "epilepsy, familial temporal lobe, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6841
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060748",
          "GARD:0026356",
          "NCIT:C141441",
          "OMIM:600512"
        ],
        "synonyms": [
          "ADLTE",
          "ADPEAF",
          "ETL1",
          "epilepsy, familial temporal lobe, type 1",
          "epilepsy, lateral temporal lobe, autosomal dominant",
          "epilepsy, partial, with auditory features"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700090"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 17942,
      "label": "familial partial epilepsy"
    }
  ]
}