{
  "id": 12958,
  "label": "keratosis palmoplantaris striata 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011881",
  "properties": {
    "xrefs": [
      "DOID:0081110",
      "GARD:0009173",
      "MEDGEN:418996",
      "MESH:C536163",
      "OMIM:607654",
      "UMLS:C2931123"
    ],
    "synonyms": [
      "KRT1 striate palmoplantar keratoderma",
      "keratosis palmoplantaris striata type 3",
      "striate palmoplantar keratoderma caused by mutation in KRT1",
      "PPKS3",
      "keratoderma palmoplantar striate form 3",
      "keratoderma, palmoplantar, striate form 3",
      "keratosis palmoplantaris striata III",
      "striate palmoplantar keratoderma 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18798,
      "label": "striate palmoplantar keratoderma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17919
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081105",
          "GARD:0015016",
          "MEDGEN:1631598",
          "Orphanet:50942",
          "SCTID:764958008",
          "UMLS:C4707237",
          "icd11.foundation:1171134598"
        ],
        "synonyms": [
          "keratosis palmoplantaris striata",
          "keratosis palmoplantaris striata et areata",
          "keratosis palmoplantaris varians of Wachters"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed."
      },
      "child_count": 2,
      "reference_id": "MONDO:0018865"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18798,
      "label": "striate palmoplantar keratoderma"
    }
  ]
}