{
  "id": 15058,
  "label": "Cowden syndrome 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014048",
  "properties": {
    "xrefs": [
      "DOID:0081002",
      "GARD:0016465",
      "MEDGEN:767433",
      "OMIM:615109",
      "UMLS:C3554519"
    ],
    "synonyms": [
      "AKT1 Cowden disease",
      "Cowden disease caused by mutation in AKT1",
      "Cowden syndrome 6",
      "Cowden syndrome type 6",
      "CWS6"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Any Cowden disease in which the cause of the disease is a mutation in the AKT1 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"
    }
  ]
}