{
  "id": 10715,
  "label": "hereditary palmoplantar keratoderma, Gamborg-Nielsen type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009489",
  "properties": {
    "xrefs": [
      "GARD:0016767",
      "MESH:C565454",
      "OMIM:244850",
      "Orphanet:86923",
      "SCTID:717228004"
    ],
    "synonyms": [
      "PPK, Gamborg-Nielsen type",
      "hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type",
      "PPKNR",
      "palmoplantar keratoderma, Norrbotten recessive type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17917,
      "label": "diffuse palmoplantar keratoderma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19132
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021289",
          "HP:0007435",
          "ICD9:757.39",
          "MEDGEN:7201",
          "Orphanet:307141",
          "SCTID:400123002",
          "UMLS:C0022584",
          "icd11.foundation:1259583500"
        ],
        "synonyms": [
          "diffuse PPK",
          "diffuse keratosis palmoplantaris",
          "diffuse palmoplantar hyperkeratosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality."
      },
      "child_count": 32,
      "reference_id": "MONDO:0017666"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17917,
      "label": "diffuse palmoplantar keratoderma"
    }
  ]
}