{
  "id": 9192,
  "label": "palmoplantar keratoderma-esophageal carcinoma syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007856",
  "properties": {
    "xrefs": [
      "DOID:0111506",
      "GARD:0003102",
      "MEDGEN:324338",
      "MESH:C536164",
      "OMIM:148500",
      "Orphanet:2198",
      "SCTID:111030006",
      "UMLS:C1835664"
    ],
    "synonyms": [
      "Bennion-Patterson syndrome",
      "Howell-Evans syndrome",
      "keratosis palmoplantaris-esophageal carcinoma syndrome",
      "palmoplantar hyperkeratosis-esophageal carcinoma syndrome",
      "palmoplantar keratoderma-esophageal carcinoma syndrome",
      "tylosis-oesophageal carcinoma syndrome",
      "Toc",
      "howel-Evans syndrome",
      "keratosis palmaris Et plantaris with esophageal cancer",
      "keratosis palmaris et plantaris with esophageal cancer",
      "keratosis palmoplantaris with esophageal cancer",
      "palmoplantar keratoderma with esophageal cancer",
      "tylosis - oesophageal carcinoma",
      "tylosis with esophageal cancer"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 17919,
      "label": "focal palmoplantar keratoderma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19132
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021294",
          "MEDGEN:419939",
          "Orphanet:307837",
          "UMLS:C2931923",
          "icd11.foundation:1676945961"
        ],
        "synonyms": [
          "focal PPK",
          "focal keratosis palmoplantaris",
          "focal palmoplantar hyperkeratosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 12,
      "reference_id": "MONDO:0017672"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 17919,
      "label": "focal palmoplantar keratoderma"
    }
  ]
}