{
  "id": 17029,
  "label": "Lennox-Gastaut syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016532",
  "properties": {
    "xrefs": [
      "DOID:0050561",
      "GARD:0009912",
      "ICD10CM:G40.81",
      "MEDGEN:116044",
      "MESH:D065768",
      "MedDRA:10048816",
      "NANDO:1200591",
      "NANDO:2200879",
      "NCIT:C84816",
      "NORD:1358",
      "OMIM:606369",
      "Orphanet:2382",
      "SCTID:230418006",
      "UMLS:C0238111",
      "icd11.foundation:651135242"
    ],
    "synonyms": [
      "LGS",
      "encephalopathy of childhood",
      "epileptic encephalopathy Lennox-Gastaut type",
      "macrocephaly and epileptic encephalopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 23814,
      "label": "genetic developmental and epileptic encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24226,
        24340
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112202",
          "GARD:0009255",
          "ICD9:345.10",
          "NANDO:1200593",
          "NCIT:C122814",
          "OMIMPS:308350"
        ],
        "synonyms": [
          "developmental and epileptic encephalopathy",
          "hereditary developmental and epileptic encephalopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity."
      },
      "child_count": 210,
      "reference_id": "MONDO:0100062"
    },
    {
      "id": 25084,
      "label": "childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19725
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027303"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A childhood-onset epilepsy syndrome where the onset of the condition includes manifestations of cognitive, neurological, or psychiatric impairment, stagnation, or regression, due directly to the underlying etiology. In contrast, an epileptic encephalopathy (EE) is present when the encephalopathy is caused by the epileptic activity. The term developmental and epileptic encephalopathy (DEE) is used when both factors contribute to the patient’s condition."
      },
      "child_count": 5,
      "reference_id": "MONDO:0800500"
    }
  ],
  "children": [
    {
      "id": 15157,
      "label": "developmental and epileptic encephalopathy 94",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17029
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081325",
          "GARD:0013197",
          "MEDGEN:815608",
          "OMIM:615369",
          "UMLS:C3809278"
        ],
        "synonyms": [
          "DEE94",
          "EEOC",
          "childhood onset epileptic encephalopathy",
          "developmental and epileptic encephalopathy 94",
          "CHCHD10-related disorders",
          "CHD2 myoclonic encephalopathy",
          "childhood-onset epileptic encephalopathy",
          "epileptic encephalopathy, childhood-onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014150"
    },
    {
      "id": 15596,
      "label": "developmental and epileptic encephalopathy, 31A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17029,
        18615,
        24182,
        24713
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080437",
          "GARD:0016094",
          "MEDGEN:894942",
          "OMIM:616346",
          "UMLS:C4225357"
        ],
        "synonyms": [
          "DEE31",
          "DNM1-encephalopathy and neurodevelopmental disorder",
          "DNM1-related epilepsy and neurodevelopmental disorder",
          "EIEE31",
          "developmental and epileptic encephalopathy 31",
          "early infantile epileptic encephalopathy caused by mutation in DNM1",
          "epileptic encephalopathy, early infantile, 31",
          "epileptic encephalopathy, early infantile, type 31",
          "DEE31A",
          "DNM1 early infantile epileptic encephalopathy",
          "developmental and epileptic encephalopathy 31A, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any developmental and epileptic encephalopathy in which the cause of the disease is a heterozygous mutation in the DNM1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014598"
    },
    {
      "id": 15900,
      "label": "developmental and epileptic encephalopathy, 43",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17029
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080447",
          "GARD:0016192",
          "MEDGEN:934679",
          "OMIM:617113",
          "UMLS:C4310712"
        ],
        "synonyms": [
          "DEE43",
          "EIEE43",
          "GABRB3 early infantile epileptic encephalopathy",
          "developmental and epileptic encephalopathy 43",
          "early infantile epileptic encephalopathy caused by mutation in GABRB3",
          "epileptic encephalopathy, early infantile, 43",
          "epileptic encephalopathy, early infantile, 43; EIEE43",
          "epileptic encephalopathy, early infantile, type 43"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014921"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 23814,
      "label": "genetic developmental and epileptic encephalopathy"
    },
    {
      "id": 25084,
      "label": "childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy"
    }
  ]
}