{
  "id": 9188,
  "label": "palmoplantar keratoderma-deafness syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007852",
  "properties": {
    "xrefs": [
      "DOID:0111505",
      "GARD:0003094",
      "MEDGEN:332030",
      "MESH:C536152",
      "OMIM:148350",
      "Orphanet:2202",
      "UMLS:C1835672"
    ],
    "synonyms": [
      "PPK-deafness syndrome",
      "palmoplantar hyperkeratosis-deafness syndrome",
      "palmoplantar hyperkeratosis-hearing loss syndrome",
      "palmoplantar keratoderma-hearing loss syndrome",
      "diffuse palmoplantar keratoderma with deafness (subtype)",
      "focal palmoplantar keratoderma with sensorineural deafness (subtype)",
      "hereditary palmoplantar keratoderma with deafness (subtype)",
      "keratoderma palmoplantar deafness",
      "keratoderma palmoplantar, with deafness",
      "keratoderma, palmoplantar, with deafness",
      "palmoplantar keratoderma and sensorineural deafness"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance."
  },
  "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"
    }
  ]
}