{
  "id": 19172,
  "label": "punctate palmoplantar keratoderma type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019332",
  "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.."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 17920,
      "label": "punctate palmoplantar keratoderma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19132
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060361",
          "GARD:0021297",
          "MEDGEN:870406",
          "Orphanet:307967",
          "SCTID:402773000",
          "UMLS:C4024851",
          "icd11.foundation:1212361548"
        ],
        "synonyms": [
          "punctate PPK",
          "punctate keratosis palmoplantaris",
          "punctate palmoplantar hyperkeratosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A palmoplantar keratosis characterized by keratoses with a \"raindrop\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017675"
    }
  ],
  "children": [
    {
      "id": 9194,
      "label": "palmoplantar keratoderma, punctate type 1A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19172
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007858"
    },
    {
      "id": 14990,
      "label": "palmoplantar keratoderma, punctate type ib",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19172
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015884",
          "MEDGEN:767059",
          "OMIM:614936",
          "UMLS:C3554145"
        ],
        "synonyms": [
          "PPKP1B",
          "keratoderma, palmoplantar, punctate type IB",
          "palmoplantar keratoderma, punctate type IB"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013980"
    }
  ],
  "roots": [
    {
      "id": 17920,
      "label": "punctate palmoplantar keratoderma"
    }
  ]
}