{
  "id": 25076,
  "label": "variable-age onset focal epilepsy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800492",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 7064,
      "label": "focal epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6761
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2234",
          "EFO:0004263",
          "ICD9:345.50",
          "MEDGEN:41836",
          "MESH:D004828",
          "NCIT:C122812",
          "SCTID:230381009",
          "UMLS:C0014547"
        ],
        "synonyms": [
          "focal epilepsy",
          "partial epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A seizure caused by a localized disorder."
      },
      "child_count": 9,
      "reference_id": "MONDO:0005384"
    },
    {
      "id": 24339,
      "label": "variable age epilepsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16436
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027372",
          "Orphanet:699645"
        ],
        "synonyms": [
          "variable age onset epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An epilepsy syndrome that has an onset during variable ages and stages of life."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100619"
    }
  ],
  "children": [
    {
      "id": 19789,
      "label": "familial focal epilepsy with variable foci",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17942,
        25076
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081420",
          "GARD:0013295",
          "MEDGEN:348951",
          "MESH:C565785",
          "OMIMPS:604364",
          "Orphanet:98820",
          "SCTID:764522009",
          "UMLS:C1858477",
          "icd11.foundation:855404450"
        ],
        "synonyms": [
          "FFEVF",
          "epilepsy, familial focal, with variable foci",
          "familial focal epilepsy with variable foci",
          "familial partial epilepsy with variable foci"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described."
      },
      "child_count": 8,
      "reference_id": "MONDO:0020310"
    },
    {
      "id": 24350,
      "label": "sleep-related hypermotor epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4663,
        25076
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028007"
        ],
        "synonyms": [
          "SHE",
          "nocturnal frontal lobe epilepsy",
          "sleep-related hyperkinetic epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A focal epilepsy syndrome with characteristic brief motor seizures occurring from sleep. This syndrome was previously known as nocturnal frontal lobe epilepsy, and (when familial) autosomal dominant nocturnal frontal lobe epilepsy. It has both genetic and structural causes. Patients may have hyperkinetic seizures, or seizures with asymmetric dystonic/tonic motor features. The term sleep-related hyperkinetic epilepsy is to be used when patients have hyperkinetic seizures alone."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100631"
    },
    {
      "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"
    },
    {
      "id": 25080,
      "label": "epilepsy with auditory features",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        25076
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027394",
          "MEDGEN:1871199",
          "UMLS:C5967406"
        ],
        "synonyms": [
          "EAF"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A variable-age onset focal epilepsy syndrome with characteristic focal aware sensory auditory seizures. Seizures often produce such mild symptoms that they are not diagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled. EAF may occur as a familial syndrome, familial EAF (FEAF, previous known as autosomal dominant lateral temporal lobe epilepsy or autosomal dominant partial epilepsy with auditory features). Inheritance may be autosomal dominant (ADEAF), with incomplete penetrance."
      },
      "child_count": 1,
      "reference_id": "MONDO:0800496"
    }
  ],
  "roots": [
    {
      "id": 7064,
      "label": "focal epilepsy"
    },
    {
      "id": 24339,
      "label": "variable age epilepsy syndrome"
    }
  ]
}