{
  "id": 15491,
  "label": "wooly hair-palmoplantar keratoderma syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014492",
  "properties": {
    "xrefs": [
      "DOID:0070554",
      "GARD:0017697",
      "MEDGEN:863639",
      "OMIM:616099",
      "Orphanet:420686",
      "SCTID:764108000",
      "UMLS:C4015202"
    ],
    "synonyms": [
      "KWWH type IV",
      "keratoderma with woolly hair type IV",
      "keratoderma with wooly hair type IV",
      "woolly hair-palmoplantar hyperkeratosis syndrome",
      "wooly hair-palmoplantar hyperkeratosis syndrome",
      "PPKWH",
      "palmoplantar keratoderma and woolly hair",
      "palmoplantar keratoderma and wooly hair"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 17919,
      "label": "focal palmoplantar keratoderma"
    }
  ]
}