{
  "id": 17919,
  "label": "focal palmoplantar keratoderma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017672",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 12,
  "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": 8653,
      "label": "hereditary painful callosities",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17919
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016705",
          "MEDGEN:349400",
          "MESH:C566180",
          "OMIM:114140",
          "Orphanet:79141",
          "UMLS:C1861964"
        ],
        "synonyms": [
          "PPK nummularis",
          "Plamoplantar hyperkeratosis nummularis",
          "Plamoplantar keratoderma nummularis",
          "keratosis palmoplantaris nummularis",
          "callosities, hereditary painful",
          "callosities, painful plantar"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007248"
    },
    {
      "id": 9192,
      "label": "palmoplantar keratoderma-esophageal carcinoma syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        17919
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111506",
          "GARD:0003102",
          "MEDGEN:324338",
          "MESH:C536164",
          "OMIM:148500",
          "Orphanet:2198",
          "SCTID:111030006",
          "UMLS:C1835664"
        ],
        "synonyms": [
          "Bennion-Patterson syndrome",
          "Howell-Evans syndrome",
          "keratosis palmoplantaris-esophageal carcinoma syndrome",
          "palmoplantar hyperkeratosis-esophageal carcinoma syndrome",
          "palmoplantar keratoderma-esophageal carcinoma syndrome",
          "tylosis-oesophageal carcinoma syndrome",
          "Toc",
          "howel-Evans syndrome",
          "keratosis palmaris Et plantaris with esophageal cancer",
          "keratosis palmaris et plantaris with esophageal cancer",
          "keratosis palmoplantaris with esophageal cancer",
          "palmoplantar keratoderma with esophageal cancer",
          "tylosis - oesophageal carcinoma",
          "tylosis with esophageal cancer"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007856"
    },
    {
      "id": 9196,
      "label": "focal palmoplantar and gingival keratoderma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17919
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070553",
          "GARD:0003098",
          "MEDGEN:372097",
          "MESH:C536157",
          "OMIM:148730",
          "Orphanet:2200",
          "SCTID:764963007",
          "UMLS:C1835650"
        ],
        "synonyms": [
          "focal palmoplantar and gingival hyperkeratosis",
          "focal palmoplantar and gingival hyperkeratosis syndrome",
          "focal palmoplantar and oral mucosa hyperkeratosis",
          "keratosis focal palmoplantar gingival",
          "keratosis, focal palmoplantar and gingival"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007860"
    },
    {
      "id": 11342,
      "label": "tyrosinemia type II",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6513,
        7019,
        17919
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050725",
          "GARD:0003105",
          "MEDGEN:75687",
          "MedDRA:10069463",
          "NANDO:1200789",
          "NANDO:2200469",
          "NCIT:C129032",
          "OMIM:276600",
          "Orphanet:28378",
          "SCTID:4887000",
          "UMLS:C0268487",
          "icd11.foundation:1900229795"
        ],
        "synonyms": [
          "Richner-Hanhart syndrome",
          "keratosis palmoplantaris-corneal dystrophy syndrome",
          "oculocutaneous tyrosinemia",
          "tyrosinemia due to TAT deficiency",
          "tyrosinemia due to tyrosine aminotransferase deficiency",
          "tyrosinemia type II",
          "Oregon type tyrosinemia",
          "Richner Hanhart syndrome",
          "TYRSN2",
          "Tat deficiency",
          "Tyrosinosis oculocutaneous type",
          "Tyrosinosis, oculocutaneous type",
          "keratosis palmoplantaris with corneal dystrophy",
          "tyrosine aminotransferase deficiency",
          "tyrosine transaminase deficiency",
          "tyrosinemia type 2",
          "tyrosinemia, type 2",
          "tyrosinemia, type II"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010160"
    },
    {
      "id": 12961,
      "label": "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17919,
        19138
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017384",
          "MEDGEN:375146",
          "MESH:C564357",
          "OMIM:607658",
          "Orphanet:307936",
          "SCTID:763658004",
          "UMLS:C1843285"
        ],
        "synonyms": [
          "HOPP syndrome",
          "hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome",
          "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome",
          "hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome",
          "hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome",
          "Hopp syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011884"
    },
    {
      "id": 14111,
      "label": "palmoplantar keratoderma, nonepidermolytic, focal 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17919
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111709",
          "GARD:0018487",
          "MEDGEN:1644485",
          "OMIM:613000",
          "UMLS:C4552049"
        ],
        "synonyms": [
          "KRT16 nonepidermolytic palmoplantar keratoderma",
          "nonepidermolytic palmoplantar keratoderma caused by mutation in KRT16",
          "palmoplantar keratoderma, nonepidermolytic, focal",
          "palmoplantar keratoderma, nonepidermolytic, focal 1",
          "palmoplantar keratoderma, nonepidermolytic, focal type 1",
          "FNEPPK1",
          "Ppkfne",
          "focal nonepidermolytic palmoplantar keratoderma",
          "keratoderma, focal nonepidermolytic palmoplantar"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013073"
    },
    {
      "id": 15460,
      "label": "nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17919,
        19138,
        19140
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017703",
          "MEDGEN:863424",
          "OMIM:616029",
          "Orphanet:423454",
          "UMLS:C4014987"
        ],
        "synonyms": [
          "ectodermal dysplasia-short stature syndrome",
          "short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome",
          "ECTDS",
          "ectodermal dysplasia/short stature syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014460"
    },
    {
      "id": 15491,
      "label": "wooly hair-palmoplantar keratoderma syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17919
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070554",
          "GARD:0017697",
          "MEDGEN:863639",
          "OMIM:616099",
          "Orphanet:420686",
          "SCTID:764108000",
          "UMLS:C4015202"
        ],
        "synonyms": [
          "KWWH type IV",
          "keratoderma with woolly hair type IV",
          "keratoderma with wooly hair type IV",
          "woolly hair-palmoplantar hyperkeratosis syndrome",
          "wooly hair-palmoplantar hyperkeratosis syndrome",
          "PPKWH",
          "palmoplantar keratoderma and woolly hair",
          "palmoplantar keratoderma and wooly hair"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014492"
    },
    {
      "id": 15618,
      "label": "isolated focal non-epidermolytic palmoplantar keratoderma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17919
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111708",
          "DOID:0111711",
          "GARD:0017781",
          "MEDGEN:895056",
          "OMIM:616400",
          "Orphanet:448264",
          "UMLS:C4225339"
        ],
        "synonyms": [
          "palmoplantar keratoderma, nonepidermolytic, focal type 2",
          "FNEPPK2",
          "palmoplantar keratoderma, nonepidermolytic, focal 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014622"
    },
    {
      "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"
    },
    {
      "id": 18373,
      "label": "focal palmoplantar keratoderma with joint keratoses",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17919
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017596",
          "MEDGEN:1667811",
          "Orphanet:370002",
          "UMLS:C4755302"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018252"
    },
    {
      "id": 18798,
      "label": "striate palmoplantar keratoderma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17919
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081105",
          "GARD:0015016",
          "MEDGEN:1631598",
          "Orphanet:50942",
          "SCTID:764958008",
          "UMLS:C4707237",
          "icd11.foundation:1171134598"
        ],
        "synonyms": [
          "keratosis palmoplantaris striata",
          "keratosis palmoplantaris striata et areata",
          "keratosis palmoplantaris varians of Wachters"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed."
      },
      "child_count": 2,
      "reference_id": "MONDO:0018865"
    }
  ],
  "roots": [
    {
      "id": 19132,
      "label": "hereditary palmoplantar keratoderma"
    }
  ]
}