{
  "id": 9897,
  "label": "tuberous sclerosis 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008612",
  "properties": {
    "xrefs": [
      "DOID:0080324",
      "GARD:0015121",
      "MEDGEN:344288",
      "MESH:C565346",
      "NCIT:C75122",
      "OMIM:191100",
      "UMLS:C1854465"
    ],
    "synonyms": [
      "TSC1 tuberous sclerosis",
      "TSC1-related tuberous sclerosis",
      "tuberous sclerosis 1",
      "tuberous sclerosis caused by mutation in TSC1",
      "tuberous sclerosis type 1",
      "tuberous sclerosis-1",
      "TSC1",
      "tuberose sclerosis",
      "tuberous sclerosis Complex",
      "tuberous sclerosis, type 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An autosomal dominant syndrome caused by pathogenic variants in the TSC1 gene, characterized by the growth of hamartomas in multiple organs, including the brain, skin, kidneys, heart, and lungs. Other clinical features include seizures, intellectual disability, and skin lesions."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3921,
      "label": "tuberous sclerosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        16218,
        23107,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13515",
          "GARD:0007830",
          "ICD10CM:Q85.1",
          "ICD9:759.5",
          "MEDGEN:22518",
          "MESH:D014402",
          "MedDRA:10045138",
          "NANDO:1200607",
          "NANDO:2200826",
          "NCIT:C3424",
          "NORD:1802",
          "OMIMPS:191100",
          "Orphanet:805",
          "SCTID:7199000",
          "UMLS:C0041341",
          "icd11.foundation:1903085809"
        ],
        "synonyms": [
          "Bourneville disease",
          "Bourneville syndrome",
          "Bourneville's disease",
          "Bourneville's syndrome",
          "TSC",
          "epiloia",
          "tuberous sclerosis",
          "tuberous sclerosis complex",
          "tuberous sclerosis syndrome",
          "adenoma sebaceum",
          "adenoma sebaceum syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary disease characterized by seizures, intellectual disability, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade."
      },
      "child_count": 8,
      "reference_id": "MONDO:0001734"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3921,
      "label": "tuberous sclerosis"
    }
  ]
}