{
  "id": 12612,
  "label": "Brooke-Spiegler syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011512",
  "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."
  },
  "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"
    }
  ],
  "children": [
    {
      "id": 8944,
      "label": "familial cylindromatosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12612
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007565"
    },
    {
      "id": 12238,
      "label": "familial multiple trichoepithelioma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        12612
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010867",
          "MEDGEN:220890",
          "NCIT:C205364",
          "Orphanet:867",
          "SCTID:403825008",
          "UMLS:C1275122"
        ],
        "synonyms": [
          "Brooke-Fordyce Trichoepitheliomas",
          "epithelioma Adenoides Cysticum of Brooke",
          "epithelioma adenoides cysticum",
          "epithelioma, hereditary multiple benign cystic",
          "hereditary multiple benign cystic epithelioma",
          "multiple familial trichoepithelioma",
          "trichoepithelioma multiple familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0011114"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    }
  ]
}