{
  "id": 17920,
  "label": "punctate palmoplantar keratoderma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017675",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 19132,
      "label": "hereditary palmoplantar keratoderma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8066,
        19129,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018988",
          "ICD9:757.39",
          "MEDGEN:590657",
          "Orphanet:79357",
          "SCTID:239066003",
          "UMLS:C0406757",
          "icd11.foundation:1941547119"
        ],
        "synonyms": [
          "hereditary PPK",
          "hereditary keratosis palmoplantaris",
          "hereditary palmoplantar hyperkeratosis",
          "hereditary palmoplantar keratosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 24,
      "reference_id": "MONDO:0019272"
    }
  ],
  "children": [
    {
      "id": 8466,
      "label": "punctate palmoplantar keratoderma type III",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17920
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060362",
          "EFO:1000758",
          "GARD:0000125",
          "MEDGEN:107467",
          "MESH:C535653",
          "OMIM:101850",
          "Orphanet:38",
          "UMLS:C0545044"
        ],
        "synonyms": [
          "AKE",
          "PPKP3",
          "acrokeratoelastoidosis of Costa",
          "ake",
          "keratoderma, palmoplantar, punctate type 3",
          "punctate palmoplantar hyperkeratosis type 3",
          "punctate palmoplantar keratoderma type 3",
          "NTIA",
          "TIA",
          "acrokeratoelastoidosis",
          "aganglionosis, total colonic",
          "collagenous plaques of hand and feet",
          "collagenous plaques of hands and feet",
          "near-total intestinal aganglionosis",
          "palmoplantar keratoderma, punctate type 3",
          "palmoplantar keratoderma, punctate type III",
          "rare form of Hirschsprung's disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later"
      },
      "child_count": 0,
      "reference_id": "MONDO:0007047"
    },
    {
      "id": 9598,
      "label": "punctate palmoplantar keratoderma type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17920
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080213",
          "GARD:0004439",
          "MEDGEN:356886",
          "OMIM:175860",
          "Orphanet:79502",
          "SCTID:765096001",
          "UMLS:C1867982"
        ],
        "synonyms": [
          "PPKP2",
          "PPPP",
          "punctate palmoplantar hyperkeratosis type 2",
          "keratoderma palmoplantar, punctate type 2",
          "palmoplantar keratoderma, punctate type II",
          "porokeratosis punctata palmaris Et plantaris",
          "punctate palmoplantar keratoderma type II",
          "type 2 punctate PPK"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections (\"spiny keratosis\") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008292"
    },
    {
      "id": 17921,
      "label": "focal acral hyperkeratosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17920
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021299",
          "MEDGEN:724380",
          "Orphanet:308013",
          "SCTID:400115004",
          "UMLS:C1302839"
        ],
        "synonyms": [
          "PPKP3 without elastoidosis",
          "PPPK3 without elastoidosis",
          "punctate palmoplantar hyperkeratosis type 3 without elastoidosis",
          "punctate palmoplantar keratoderma type 3 without elastoidosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017677"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 19132,
      "label": "hereditary palmoplantar keratoderma"
    }
  ]
}