{
  "id": 16981,
  "label": "pachyonychia congenita",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016471",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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": [
    {
      "id": 9484,
      "label": "pachyonychia congenita 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16981
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008173"
    },
    {
      "id": 9485,
      "label": "pachyonychia congenita 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015103",
          "MEDGEN:314107",
          "OMIM:167210",
          "UMLS:C1721007"
        ],
        "synonyms": [
          "KRT17 pachyonychia congenita",
          "pachyonychia congenita 2",
          "pachyonychia congenita caused by mutation in KRT17",
          "pachyonychia congenita type 2",
          "PC2",
          "pachyonychia congenita, Jackson-Lawler type",
          "pachyonychia congenita, Jackson-Lawler 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 KRT17 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008174"
    },
    {
      "id": 15327,
      "label": "pachyonychia congenita 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016005",
          "MEDGEN:811523",
          "OMIM:615726",
          "UMLS:C3714948"
        ],
        "synonyms": [
          "KRT6A pachyonychia congenita",
          "pachyonychia congenita 3",
          "pachyonychia congenita caused by mutation in KRT6A",
          "pachyonychia congenita type 3",
          "PC3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014324"
    },
    {
      "id": 15328,
      "label": "pachyonychia congenita 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016006",
          "MEDGEN:811524",
          "OMIM:615728",
          "UMLS:C3714949"
        ],
        "synonyms": [
          "KRT6B pachyonychia congenita",
          "pachyonychia congenita 4",
          "pachyonychia congenita caused by mutation in KRT6B",
          "pachyonychia congenita type 4",
          "PC4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014325"
    }
  ],
  "roots": [
    {
      "id": 17919,
      "label": "focal palmoplantar keratoderma"
    }
  ]
}