{
  "id": 9347,
  "label": "Cowden syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008021",
  "properties": {
    "xrefs": [
      "GARD:0016450",
      "OMIM:158350"
    ],
    "synonyms": [
      "Cowden disease caused by mutation in PTEN",
      "Cowden syndrome 1",
      "Cowden syndrome type 1",
      "Lhermitte-Duclos syndrome",
      "PTEN Cowden disease",
      "CS",
      "CWS1",
      "Lhermitte-Duclos disease",
      "Proteus-like syndrome",
      "cerebellar granule cell Hypertrophy and megalencephaly",
      "cerebelloparenchymal disorder 6",
      "dysplastic gangliocytoma of the cerebellum",
      "multiple hamartoma syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16696,
      "label": "Cowden disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:6457",
          "GARD:0006202",
          "MEDGEN:5420",
          "MESH:D006223",
          "MedDRA:10051906",
          "NANDO:2200918",
          "NCIT:C3076",
          "OMIMPS:158350",
          "Orphanet:201",
          "SCTID:58037000",
          "UMLS:C0018553"
        ],
        "synonyms": [
          "Cowden disease",
          "Cowden syndrome",
          "Cowden's disease",
          "multiple hamartoma syndrome",
          "CD",
          "MHAM",
          "dysplastic gangliocytoma of cerebellum"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group."
      },
      "child_count": 16,
      "reference_id": "MONDO:0016063"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16696,
      "label": "Cowden disease"
    }
  ]
}