{
  "id": 24350,
  "label": "sleep-related hypermotor epilepsy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100631",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4663,
      "label": "frontal lobe epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7064
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3331",
          "MEDGEN:39074",
          "MESH:D017034",
          "SCTID:230394006",
          "UMLS:C0085541"
        ],
        "synonyms": [
          "epilepsy of frontal lobe",
          "frontal lobe epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)"
      },
      "child_count": 2,
      "reference_id": "MONDO:0002612"
    },
    {
      "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": 2707,
      "label": "familial sleep-related hypermotor epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17942,
        24350
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060681",
          "GARD:0011918",
          "GARD:0022703",
          "MEDGEN:1865268",
          "MEDGEN:777188",
          "MESH:C579932",
          "OMIMPS:600513",
          "Orphanet:98784",
          "SCTID:698021005",
          "UMLS:C3696898",
          "UMLS:C5577629",
          "icd11.foundation:1004734747"
        ],
        "synonyms": [
          "ADNFLE",
          "autosomal dominant nocturnal frontal lobe epilepsy",
          "epilepsy, nocturnal frontal lobe, familial",
          "familial sleep-related hyperkinetic epilepsy",
          "familial sleep-related hypermotor epilepsy",
          "famillial SHE"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of sleep-related hypermotor epilepsy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 10,
      "reference_id": "MONDO:0000030"
    },
    {
      "id": 24349,
      "label": "acquired sleep-related hypermotor epilepsy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24350
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028006"
        ],
        "synonyms": [
          "acquired SHE"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of sleep-related hypermotor epilepsy that is acquired during the lifetime of the individual. The seizures are triggered by an identifiable structural abnormality in the brain—typically detected by MRI—such as cortical dysplasia, tumors (e.g., low-grade gliomas), scars from prior injury or infection, vascular malformations (e.g., cavernomas), or post-traumatic changes."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100630"
    }
  ],
  "roots": [
    {
      "id": 4663,
      "label": "frontal lobe epilepsy"
    },
    {
      "id": 25076,
      "label": "variable-age onset focal epilepsy syndrome"
    }
  ]
}