{
  "id": 12091,
  "label": "diffuse nonepidermolytic palmoplantar keratoderma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010962",
  "properties": {
    "xrefs": [
      "DOID:0050428",
      "DOID:0070550",
      "GARD:0005186",
      "MEDGEN:371463",
      "OMIM:600962",
      "Orphanet:496",
      "Orphanet:530838",
      "SCTID:716105001",
      "UMLS:C1833030"
    ],
    "synonyms": [
      "KRT1-related diffuse nonepidermolytic keratoderma",
      "NEPPK",
      "diffuse nonepidermolytic palmoplantar keratoderma",
      "diffuse palmoplantar keratoderma, Bothnian type",
      "non-epidermolytic palmoplantar keratoderma",
      "nonepidermolytic palmoplantar keratoderma",
      "palmoplantar keratoderma, nonepidermolytic",
      "autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type",
      "PPK diffusa circumscripta",
      "PPKNE",
      "Thost-Unna disease",
      "Thost-Unna palmoplantar keratoderma",
      "Thost-Unna syndrome",
      "Unna-Thost palmoplantar keratoderma",
      "Unna-Thost syndrome",
      "diffuse NEPPK",
      "keratoderma, nonepidermolytic palmoplantar",
      "tylosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis."
  },
  "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": 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": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 17917,
      "label": "diffuse palmoplantar keratoderma"
    }
  ]
}