{
  "id": 15057,
  "label": "Cowden syndrome 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014047",
  "properties": {
    "xrefs": [
      "DOID:0081001",
      "GARD:0016464",
      "MEDGEN:767432",
      "OMIM:615108",
      "UMLS:C3554518"
    ],
    "synonyms": [
      "Cowden disease caused by mutation in PIK3CA",
      "Cowden syndrome 5",
      "Cowden syndrome type 5",
      "PIK3CA Cowden disease",
      "CWS5"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA 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"
    },
    {
      "id": 29234,
      "label": "PIK3CA-related overgrowth spectrum",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19480
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027113",
          "MEDGEN:1790024",
          "UMLS:C4728213"
        ],
        "synonyms": [
          "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes"
        ],
        "definition": "Any overgrowth syndrome resulting from pathogenic gain-of-function variants in the PIK3CA gene. The variants can be germline or somatic"
      },
      "child_count": 5,
      "reference_id": "MONDO:1040002"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16696,
      "label": "Cowden disease"
    },
    {
      "id": 29234,
      "label": "PIK3CA-related overgrowth spectrum"
    }
  ]
}