{
  "id": 3921,
  "label": "tuberous sclerosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001734",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        20011,
        20301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019921",
          "MEDGEN:14326",
          "MESH:D009386",
          "NCIT:C3266",
          "Orphanet:140162",
          "SCTID:699346009",
          "UMLS:C0027672"
        ],
        "synonyms": [
          "cancer syndrome, hereditary",
          "cancer syndromes, hereditary",
          "familial neoplastic syndrome",
          "familial tumor syndrome",
          "familial tumour syndrome",
          "hereditary cancer syndrome",
          "hereditary cancer syndromes",
          "hereditary neoplastic syndrome",
          "hereditary neoplastic syndromes",
          "hereditary tumor syndrome",
          "hereditary tumour syndrome",
          "inherited cancer syndrome",
          "inherited cancer-predisposing syndrome",
          "neoplastic syndrome, hereditary",
          "syndrome, hereditary cancer",
          "syndrome, hereditary neoplastic",
          "syndromes, hereditary cancer",
          "syndromes, hereditary neoplastic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The inherited predisposition toward getting a tumor."
      },
      "child_count": 351,
      "reference_id": "MONDO:0015356"
    },
    {
      "id": 23107,
      "label": "neurocutaneous syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:82706",
          "MESH:D020752",
          "NANDO:2100220",
          "NCIT:C84348",
          "SCTID:78572006",
          "UMLS:C0265316"
        ],
        "synonyms": [
          "neurocutaneous syndrome",
          "Phacomatoses",
          "Phacomatosis",
          "Phakomatoses",
          "neurocutaneous disorder",
          "neurocutaneous disorders",
          "neuroectodermal dysplasia",
          "neuroectodermal dysplasia syndrome",
          "neuroectodermal dysplasia syndromes",
          "phakomatosis",
          "syndrome, neurocutaneous",
          "syndrome, neuroectodermal dysplasia",
          "syndromes, neurocutaneous",
          "syndromes, neuroectodermal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs."
      },
      "child_count": 9,
      "reference_id": "MONDO:0042983"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 9897,
      "label": "tuberous sclerosis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3921
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008612"
    },
    {
      "id": 14235,
      "label": "tuberous sclerosis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3921
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080325",
          "GARD:0015640",
          "MEDGEN:348170",
          "MESH:C566021",
          "NCIT:C75331",
          "OMIM:613254",
          "UMLS:C1860707"
        ],
        "synonyms": [
          "TSC2-related tuberous sclerosis",
          "tuberous sclerosis 2",
          "tuberous sclerosis type 2",
          "tuberous sclerosis-2",
          "TSC2",
          "TSC2 Angiomyolipomas, renal, modifier of",
          "tuberous sclerosis, type 2"
        ],
        "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 TSC2 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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013199"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    },
    {
      "id": 23107,
      "label": "neurocutaneous syndrome"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}