{
  "id": 16696,
  "label": "Cowden disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016063",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "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": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    }
  ],
  "children": [
    {
      "id": 9347,
      "label": "Cowden syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16696
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008021"
    },
    {
      "id": 13918,
      "label": "Cowden syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16696
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024896",
          "MESH:C567337",
          "OMIM:612359"
        ],
        "synonyms": [
          "Cowden disease caused by mutation in SDHB",
          "Cowden syndrome 2",
          "Cowden syndrome type 2",
          "SDHB Cowden disease",
          "CWS2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012878"
    },
    {
      "id": 15055,
      "label": "Cowden syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16696
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024966",
          "OMIM:615106"
        ],
        "synonyms": [
          "Cowden disease caused by mutation in SDHD",
          "Cowden syndrome 3",
          "Cowden syndrome type 3",
          "SDHD Cowden disease",
          "CWS3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014045"
    },
    {
      "id": 15056,
      "label": "Cowden syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16696
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081000",
          "GARD:0016463",
          "MEDGEN:767431",
          "OMIM:615107",
          "UMLS:C3554517"
        ],
        "synonyms": [
          "Cowden disease caused by mutation in KLLN",
          "Cowden syndrome 4",
          "Cowden syndrome type 4",
          "KLLN Cowden disease",
          "CWS4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014046"
    },
    {
      "id": 15057,
      "label": "Cowden syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16696,
        29234
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014047"
    },
    {
      "id": 15058,
      "label": "Cowden syndrome 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16696
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014048"
    },
    {
      "id": 15790,
      "label": "Cowden syndrome 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16696
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081003",
          "GARD:0016470",
          "MEDGEN:908796",
          "OMIM:616858",
          "UMLS:C4225179"
        ],
        "synonyms": [
          "Cowden disease caused by mutation in SEC23B",
          "Cowden syndrome 7",
          "Cowden syndrome type 7",
          "SEC23B Cowden disease",
          "CWS7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014802"
    },
    {
      "id": 23088,
      "label": "sacral hemangiomas multiple congenital abnormalities",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16696
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000317",
          "MEDGEN:419414",
          "MESH:C537222",
          "UMLS:C2931443"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0042961"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}