{
  "id": 18347,
  "label": "generalized epilepsy with febrile seizures plus",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018214",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 24300,
      "label": "hereditary generalized epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24299
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of generalized epilepsy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100576"
    }
  ],
  "children": [
    {
      "id": 12521,
      "label": "generalized epilepsy with febrile seizures plus, type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18347
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111302",
          "GARD:0018659",
          "MEDGEN:348994",
          "MESH:C565809",
          "OMIM:604233",
          "UMLS:C1858672"
        ],
        "synonyms": [
          "generalized epilepsy with febrile seizures plus, type 1",
          "GEFSP1",
          "Gefs+, type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A generalized epilepsy with febrile seizures plus that has material basis in heterozygous mutation in SCN1B on chromosome 19q13.11."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011416"
    },
    {
      "id": 12565,
      "label": "generalized epilepsy with febrile seizures plus, type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2708,
        18347
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111294",
          "GARD:0018661",
          "MEDGEN:388117",
          "MESH:C565810",
          "OMIM:604403",
          "UMLS:C1858673"
        ],
        "synonyms": [
          "GEFS+, type 2",
          "SCN1A febrile seizures, familial",
          "febrile seizures, familial caused by mutation in SCN1A",
          "generalized epilepsy with febrile seizures plus, type 2",
          "GEFSP2",
          "febrile seizures, familial, 3A"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011461"
    },
    {
      "id": 12968,
      "label": "febrile seizures, familial, 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2708,
        11962,
        18347
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011891"
    },
    {
      "id": 13400,
      "label": "generalized epilepsy with febrile seizures plus, type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18347
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111293",
          "GARD:0018662",
          "MEDGEN:342858",
          "MESH:C565227",
          "OMIM:609800",
          "UMLS:C1853345"
        ],
        "synonyms": [
          "GEFSP4",
          "generalized epilepsy with febrile seizures plus, type 4",
          "Gefs+, type 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012346"
    },
    {
      "id": 13886,
      "label": "generalized epilepsy with febrile seizures plus, type 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18347
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111300",
          "GARD:0018663",
          "MEDGEN:394198",
          "MESH:C567371",
          "OMIM:612279",
          "UMLS:C2677078"
        ],
        "synonyms": [
          "GEFSP6",
          "generalized epilepsy with febrile seizures plus, type 6",
          "Gefs+, type 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012846"
    },
    {
      "id": 14480,
      "label": "generalized epilepsy with febrile seizures plus, type 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18347
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111299",
          "GARD:0018664",
          "MEDGEN:462541",
          "OMIM:613828",
          "UMLS:C3151191"
        ],
        "synonyms": [
          "GEFSP8",
          "generalized epilepsy with febrile seizures plus, type 8",
          "Gefs+, type 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013448"
    },
    {
      "id": 14501,
      "label": "generalized epilepsy with febrile seizures plus, type 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18347
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111295",
          "GARD:0018665",
          "MEDGEN:416630",
          "MESH:C567827",
          "OMIM:613863",
          "UMLS:C2751778"
        ],
        "synonyms": [
          "GEFSP7",
          "Gefs+, type 7",
          "generalized epilepsy with febrile seizures plus, type 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013470"
    },
    {
      "id": 15516,
      "label": "generalized epilepsy with febrile seizures plus, type 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18347
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111301",
          "GARD:0018668",
          "MEDGEN:863832",
          "OMIM:616172",
          "UMLS:C4015395"
        ],
        "synonyms": [
          "STX1B generalised epilepsy with febrile seizures plus",
          "STX1B generalized epilepsy with febrile seizures plus",
          "STX1b generalised epilepsy with febrile seizures plus",
          "STX1b generalized epilepsy with febrile seizures plus",
          "generalised epilepsy with febrile seizures plus caused by mutation in STX1B",
          "generalised epilepsy with febrile seizures plus caused by mutation in STX1b",
          "generalized epilepsy with febrile seizures plus caused by mutation in STX1B",
          "generalized epilepsy with febrile seizures plus caused by mutation in STX1b",
          "generalized epilepsy with febrile seizures plus, type 9",
          "GEFSP9",
          "Gefs+, type 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014517"
    },
    {
      "id": 22434,
      "label": "generalized epilepsy with febrile seizures plus, type 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18347
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111296",
          "GARD:0018671",
          "MEDGEN:1676426",
          "OMIM:618482",
          "UMLS:C5193120"
        ],
        "synonyms": [
          "GEFSP10",
          "GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10",
          "Gefs+, Type 10"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032777"
    },
    {
      "id": 25928,
      "label": "generalized epilepsy with febrile seizures plus, type 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18347
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027006",
          "MEDGEN:1854923",
          "OMIM:620755",
          "UMLS:C5935592"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958324"
    }
  ],
  "roots": [
    {
      "id": 24300,
      "label": "hereditary generalized epilepsy"
    }
  ]
}