{
  "id": 2707,
  "label": "familial sleep-related hypermotor epilepsy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000030",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "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"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 12032,
      "label": "autosomal dominant nocturnal frontal lobe epilepsy 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2707
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060682",
          "GARD:0015319",
          "MEDGEN:324932",
          "MESH:C563930",
          "OMIM:600513",
          "UMLS:C1838049"
        ],
        "synonyms": [
          "CHRNA4 autosomal dominant nocturnal frontal lobe epilepsy",
          "ENFL1",
          "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA4",
          "autosomal dominant nocturnal frontal lobe epilepsy type 1",
          "epilepsy, nocturnal frontal lobe, type 1",
          "epilepsy, nocturnal frontal lobe, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010899"
    },
    {
      "id": 12413,
      "label": "autosomal dominant nocturnal frontal lobe epilepsy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2707
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060683",
          "GARD:0015352",
          "MEDGEN:351053",
          "MESH:C566400",
          "OMIM:603204",
          "UMLS:C1864125"
        ],
        "synonyms": [
          "ENFL2",
          "autosomal dominant nocturnal frontal lobe epilepsy type 2",
          "epilepsy, nocturnal frontal lobe, type 2",
          "epilepsy, nocturnal frontal lobe, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011297"
    },
    {
      "id": 12642,
      "label": "autosomal dominant nocturnal frontal lobe epilepsy 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2707
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060684",
          "GARD:0015380",
          "MEDGEN:344263",
          "MESH:C565334",
          "OMIM:605375",
          "UMLS:C1854335"
        ],
        "synonyms": [
          "CHRNB2 autosomal dominant nocturnal frontal lobe epilepsy",
          "ENFL3",
          "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNB2",
          "autosomal dominant nocturnal frontal lobe epilepsy type 3",
          "epilepsy, nocturnal frontal lobe, type 3",
          "epilepsy, nocturnal frontal lobe, 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011545"
    },
    {
      "id": 13523,
      "label": "autosomal dominant nocturnal frontal lobe epilepsy 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2707
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060685",
          "DOID:0081119",
          "GARD:0015481",
          "MEDGEN:332082",
          "MESH:C563679",
          "OMIM:610353",
          "UMLS:C1835905"
        ],
        "synonyms": [
          "CHRNA2 autosomal dominant nocturnal frontal lobe epilepsy",
          "ENFL4",
          "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA2",
          "autosomal dominant nocturnal frontal lobe epilepsy type 4",
          "epilepsy, nocturnal frontal lobe, type 4",
          "convulsions, benign familial infantile, 6",
          "epilepsy, familial, with nocturnal wandering and Ictal fear",
          "epilepsy, nocturnal frontal lobe, 4",
          "seizures, benign familial infantile, 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012474"
    },
    {
      "id": 15012,
      "label": "autosomal dominant nocturnal frontal lobe epilepsy 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2707
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060686",
          "GARD:0015891",
          "MEDGEN:767220",
          "OMIM:615005",
          "UMLS:C3554306"
        ],
        "synonyms": [
          "ENFL5",
          "KCNT1 autosomal dominant nocturnal frontal lobe epilepsy",
          "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in KCNT1",
          "autosomal dominant nocturnal frontal lobe epilepsy type 5",
          "epilepsy nocturnal frontal lobe, 5",
          "epilepsy, nocturnal frontal lobe, type 5",
          "epilepsy, nocturnal frontal lobe, 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014002"
    }
  ],
  "roots": [
    {
      "id": 17942,
      "label": "familial partial epilepsy"
    },
    {
      "id": 24350,
      "label": "sleep-related hypermotor epilepsy"
    }
  ]
}