{
  "id": 12968,
  "label": "febrile seizures, familial, 8",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011891",
  "properties": {
    "xrefs": [
      "DOID:0111298",
      "GARD:0018058",
      "MEDGEN:370755",
      "MESH:C565811",
      "OMIM:607681",
      "OMIM:611277",
      "UMLS:C1969810"
    ],
    "synonyms": [
      "GABRG2 childhood absence epilepsy",
      "GABRG2 generalised epilepsy with febrile seizures plus",
      "GABRG2 generalized epilepsy with febrile seizures plus",
      "childhood absence epilepsy caused by mutation in GABRG2",
      "generalised epilepsy with febrile seizures plus caused by mutation in GABRG2",
      "generalised epilepsy with febrile seizures plus, type 3",
      "generalized epilepsy with febrile seizures plus caused by mutation in GABRG2",
      "generalized epilepsy with febrile seizures plus, type 3",
      "ECA2",
      "GEFSP3",
      "Gefs+, type 3",
      "epilepsy, childhood absence, susceptibility to, 2",
      "epilepsy, childhood absence, susceptibility to, type 2",
      "susceptibility to childhood absence epilepsy 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2708,
      "label": "febrile seizures, familial",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111297",
          "OMIMPS:121210"
        ],
        "synonyms": [
          "seizures, familial febrile"
        ]
      },
      "child_count": 13,
      "reference_id": "MONDO:0000032"
    },
    {
      "id": 11962,
      "label": "childhood absence epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        25083
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050708",
          "DOID:1825",
          "GARD:0016667",
          "MEDGEN:924120",
          "OMIMPS:600131",
          "Orphanet:64280",
          "SCTID:50866000",
          "UMLS:C4281785",
          "icd11.foundation:726403046"
        ],
        "synonyms": [
          "pyknolepsy",
          "petit mal seizure"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis."
      },
      "child_count": 1,
      "reference_id": "MONDO:0010826"
    },
    {
      "id": 18347,
      "label": "generalized epilepsy with febrile seizures plus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24300
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060170",
          "GARD:0018641",
          "MEDGEN:503203",
          "MESH:C565808",
          "NCIT:C122811",
          "OMIMPS:604233",
          "Orphanet:36387",
          "SCTID:699688008",
          "UMLS:C3502809"
        ],
        "synonyms": [
          "GEFS+",
          "epilepsy, generalized, with febrile seizures plus",
          "generalised epilepsy with febrile seizures-plus",
          "generalized epilepsy with febrile seizures plus",
          "genetic epilepsy with febrile seizures plus",
          "genetic epilepsy with febrile seizures-plus"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS)."
      },
      "child_count": 10,
      "reference_id": "MONDO:0018214"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2708,
      "label": "febrile seizures, familial"
    },
    {
      "id": 11962,
      "label": "childhood absence epilepsy"
    },
    {
      "id": 18347,
      "label": "generalized epilepsy with febrile seizures plus"
    }
  ]
}