{
  "id": 9194,
  "label": "palmoplantar keratoderma, punctate type 1A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007858",
  "properties": {
    "xrefs": [
      "DOID:0080214",
      "GARD:0015081",
      "OMIM:148600"
    ],
    "synonyms": [
      "AAGAB punctate palmoplantar keratoderma",
      "keratoderma, palmoplantar, punctate type IA",
      "palmoplantar keratoderma, punctate type 1A",
      "punctate palmoplantar keratoderma caused by mutation in AAGAB",
      "Kppp1",
      "PPKP1A",
      "keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type",
      "keratosis palmoplantaris papulosa",
      "palmoplantar keratoderma, punctate type 1",
      "palmoplantar keratoderma, punctate type IA",
      "punctate palmoplantar keratoderma type 1A"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19172,
      "label": "punctate palmoplantar keratoderma type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17920
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003103",
          "MEDGEN:372099",
          "Orphanet:79501",
          "SCTID:717184007",
          "UMLS:C1835662"
        ],
        "synonyms": [
          "Buschke-Fischer-Brauer syndrome",
          "PPKP1",
          "keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type",
          "Brauer-Buschke-Fischer syndrome",
          "keratoderma, palmoplantar punctate type 1",
          "punctate palmoplantar keratoderma type I",
          "type I punctate palmoplantar keratoderma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients.."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019332"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19172,
      "label": "punctate palmoplantar keratoderma type 1"
    }
  ]
}