{
  "id": 25071,
  "label": "variable-age onset idiopathic generalized epilepsy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800487",
  "properties": {
    "xrefs": [
      "GARD:0027390"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any idiopathic generalized epilepsy syndrome that has a variable-age onset."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 7224,
      "label": "idiopathic generalized epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24300
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1827",
          "EFO:0005917",
          "MEDGEN:75725",
          "MESH:C562694",
          "OMIM:600669",
          "OMIMPS:600669",
          "SCTID:19598007",
          "UMLS:C0270850"
        ],
        "synonyms": [
          "generalized epilepsy",
          "EIG",
          "IGE",
          "epilepsy, idiopathic generalized",
          "hereditary idiopathic generalized epilepsy",
          "idiopathic generalised epilepsy",
          "idiopathic generalized epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A generalised epilepsy that encompasses several common seizure phenotypes including childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy and epilepsy with generalized tonic-clonic seizures alone. These epilepsy syndromes have polygenic inheritance with or without environmental factors contributing to seizure susceptibility. Seizure types include one or a combination of absence seizures, myoclonic seizures and/or generalized tonic-clonic seizures."
      },
      "child_count": 2,
      "reference_id": "MONDO:0005579"
    },
    {
      "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": 7375,
      "label": "epilepsy with generalized tonic-clonic seizures",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25071
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:7725",
          "EFO:0007262",
          "GARD:0024228",
          "ICD9:345.10",
          "MEDGEN:4987",
          "MESH:D004830",
          "NCIT:C3022",
          "Orphanet:698005",
          "SCTID:352818000",
          "UMLS:C0014549"
        ],
        "synonyms": [
          "EGTCA",
          "epilepsy with generalized tonic-clonic seizures alone",
          "grand Mal epilepsy",
          "tonic-clonic epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A generalized tonic-clonic seizure."
      },
      "child_count": 0,
      "reference_id": "MONDO:0005754"
    },
    {
      "id": 10910,
      "label": "juvenile myoclonic epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24301,
        25071
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4890",
          "GARD:0006808",
          "ICD10CM:G40.B",
          "ICD9:345.10",
          "MEDGEN:78738",
          "MESH:D020190",
          "MedDRA:10071082",
          "NCIT:C84796",
          "OMIM:254770",
          "OMIM:606904",
          "OMIMPS:254770",
          "Orphanet:307",
          "SCTID:6204001",
          "UMLS:C0270853",
          "icd11.foundation:1014397110"
        ],
        "synonyms": [
          "EJM",
          "JME",
          "epilepsy, myoclonic juvenile",
          "juvenile myoclonus epilepsy",
          "myoclonic epilepsy, juvenile",
          "myoclonic epilepsy, juvenile, 1",
          "myoclonic epilepsy, juvenile, susceptibility to, 1",
          "petit mal, impulsive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "The most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)."
      },
      "child_count": 2,
      "reference_id": "MONDO:0009696"
    },
    {
      "id": 25041,
      "label": "juvenile absence epilepsy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25071
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060172",
          "GARD:0002162",
          "MEDGEN:1388059",
          "NCIT:C129868",
          "Orphanet:1941",
          "SCTID:230413002",
          "UMLS:C4317339",
          "icd11.foundation:519416529"
        ],
        "synonyms": [
          "JAE",
          "epilepsy juvenile absence"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A genetic epilepsy with onset occurring around puberty. Juvenile absence epilepsy is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800453"
    },
    {
      "id": 26405,
      "label": "epilepsy, idiopathic generalized 20",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25071
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIM:621500"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0980988"
    }
  ],
  "roots": [
    {
      "id": 7224,
      "label": "idiopathic generalized epilepsy"
    },
    {
      "id": 24339,
      "label": "variable age epilepsy syndrome"
    }
  ]
}