{
  "id": 8944,
  "label": "familial cylindromatosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007565",
  "properties": {
    "xrefs": [
      "GARD:0009707",
      "MEDGEN:343593",
      "MESH:C536611",
      "NCIT:C43352",
      "OMIM:132700",
      "Orphanet:211",
      "UMLS:C1851526"
    ],
    "synonyms": [
      "Ancell-Spiegler syndrome",
      "turban tumor",
      "turban tumor syndrome",
      "turban tumour",
      "turban tumour syndrome",
      "'turban tumor' syndrome",
      "Ancell-Spiegler Cylindromas",
      "CYLD",
      "Cylindromas, dermal eccrine",
      "cylindromatosis, familial",
      "turban tumors",
      "turban tumours"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12612,
      "label": "Brooke-Spiegler syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        16218
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050693",
          "GARD:0010179",
          "ICD9:239.2",
          "MEDGEN:346703",
          "NCIT:C205541",
          "OMIM:605041",
          "Orphanet:79493",
          "SCTID:703531009",
          "UMLS:C1857941"
        ],
        "synonyms": [
          "Brooke-Spiegler syndrome",
          "CYLD cutaneous syndrome",
          "BRSS",
          "Bss",
          "Spiegler-Brooke syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma."
      },
      "child_count": 4,
      "reference_id": "MONDO:0011512"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12612,
      "label": "Brooke-Spiegler syndrome"
    }
  ]
}