{
  "id": 9484,
  "label": "pachyonychia congenita 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008173",
  "properties": {
    "xrefs": [
      "GARD:0015102",
      "MEDGEN:353335",
      "OMIM:167200",
      "SCTID:39427000",
      "UMLS:C1706595"
    ],
    "synonyms": [
      "KRT16 pachyonychia congenita",
      "pachyonychia congenita 1",
      "pachyonychia congenita caused by mutation in KRT16",
      "pachyonychia congenita type 1",
      "Jadassohn-Lewandowsky syndrome",
      "Jadassohn-Lewandowsky syndrome, formerly",
      "PC1",
      "pachyonychia congenita, Jadassohn-Lewandowsky type",
      "pachyonychia congenita, Jadassohn-Lewandowsky type, formerly"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16981,
      "label": "pachyonychia congenita",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17919
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050449",
          "GARD:0010753",
          "MEDGEN:78556",
          "MESH:D053549",
          "NCIT:C84986",
          "NORD:1542",
          "OMIMPS:167200",
          "Orphanet:2309",
          "UMLS:C0265334",
          "icd11.foundation:1446983705"
        ],
        "synonyms": [
          "PC",
          "pachyonychia congenita type 1",
          "congenital pachyonychia",
          "pachyonychia congenita syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016471"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16981,
      "label": "pachyonychia congenita"
    }
  ]
}