{
  "id": 9586,
  "label": "Peutz-Jeghers syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008280",
  "properties": {
    "xrefs": [
      "DOID:3852",
      "GARD:0007378",
      "ICD9:759.6",
      "MEDGEN:18404",
      "MESH:D010580",
      "MedDRA:10034764",
      "NANDO:2200917",
      "NCIT:C3324",
      "NORD:1570",
      "OMIM:175200",
      "Orphanet:2869",
      "SCTID:54411001",
      "UMLS:C0031269",
      "icd11.foundation:969253189"
    ],
    "synonyms": [
      "Jeghers-Peutz syndrome",
      "PJS",
      "Peutz Jeghers Syndrome",
      "Peutz's syndrome",
      "Peutz-Jeghers syndrome",
      "STK11-related Peutz-Jeghers syndrome",
      "hamartomatous intestinal polyposis",
      "polyps and spots syndrome",
      "Peutz Jeghers polyposis",
      "lentiginosis, perioral",
      "periorificial lentiginosis syndrome",
      "polyposis, hamartomatous intestinal",
      "polyps-and-Spots syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "An autosomal dominant disorder caused by pathogenic variants in the STK11 gene, characterized by hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation and increased risk of GI and extra-GI malignancies."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 16103,
      "label": "intestinal polyposis syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16218
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019847",
          "MEDGEN:577190",
          "MedDRA:10057018",
          "NCIT:C155954",
          "Orphanet:104010",
          "SCTID:254589009",
          "UMLS:C0345891"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A syndrome associated with the development of multiple polyps throughout the intestine. It includes familial adenomatous polyposis , hamartomatous polyposis syndromes, and other rare polyposis syndromes."
      },
      "child_count": 8,
      "reference_id": "MONDO:0015185"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 16103,
      "label": "intestinal polyposis syndrome"
    }
  ]
}