{
  "id": 10716,
  "label": "Papillon-Lefevre disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009490",
  "properties": {
    "xrefs": [
      "DOID:3389",
      "GARD:0003100",
      "ICD9:759.89",
      "MEDGEN:45306",
      "MESH:D010214",
      "NCIT:C84992",
      "NORD:1552",
      "OMIM:245000",
      "Orphanet:678",
      "SCTID:40158001",
      "UMLS:C0030360"
    ],
    "synonyms": [
      "PLS",
      "Papillon Lefèvre Syndrome",
      "keratosis palmoplantar-periodontopathy syndrome",
      "Keratoris palmoplantaris with periodontopathia",
      "PALS",
      "PAPILLON-Lefevre syndrome",
      "Papillon-LEFèvre syndrome",
      "Pls",
      "hyperkeratosis palmoplantaris with periodontosis",
      "keratosis palmoplantar - periodontopathy",
      "keratosis palmoplantaris with periodontopathia",
      "palmar-plantar hyperkeratosis and concomitant periodontal destruction",
      "palmoplantar keratoderma with periodontosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4686,
      "label": "periodontal disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6893
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3388",
          "ICD9:523.8",
          "MEDGEN:10658",
          "MESH:D010510",
          "NCIT:C63743",
          "SCTID:2556008",
          "UMLS:C0031090"
        ],
        "synonyms": [
          "disease of periodontium",
          "disease or disorder of periodontium",
          "disorder of periodontium",
          "periodontal disease",
          "periodontal disorder",
          "periodontium disease",
          "periodontium disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support."
      },
      "child_count": 4,
      "reference_id": "MONDO:0002635"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 16630,
      "label": "functional neutrophil defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6569
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020321",
          "MEDGEN:1863601",
          "Orphanet:183681",
          "SCTID:105600002",
          "UMLS:C5924997",
          "icd11.foundation:808756909"
        ],
        "synonyms": [
          "neutrophil disease",
          "neutrophilopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0015978"
    },
    {
      "id": 17917,
      "label": "diffuse palmoplantar keratoderma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19132
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021289",
          "HP:0007435",
          "ICD9:757.39",
          "MEDGEN:7201",
          "Orphanet:307141",
          "SCTID:400123002",
          "UMLS:C0022584",
          "icd11.foundation:1259583500"
        ],
        "synonyms": [
          "diffuse PPK",
          "diffuse keratosis palmoplantaris",
          "diffuse palmoplantar hyperkeratosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality."
      },
      "child_count": 32,
      "reference_id": "MONDO:0017666"
    },
    {
      "id": 17972,
      "label": "disorder of lysosomal-related organelles",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021334",
          "MEDGEN:1826110",
          "Orphanet:309340",
          "UMLS:C5681043"
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0017739"
    },
    {
      "id": 25051,
      "label": "CTSC-related disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19138
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026566"
        ],
        "synonyms": [
          "CTSC-related disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any ectodermal dysplasia syndrome in which the cause of the disease is a variation in the CTSC gene. Variations in the CTSC gene can result in (1) Papillon-Lefevre syndrome (PLS) characterized by palmoplantar keratoderma, severe periodontitis affecting deciduous and permanent dentitions, and premature loss of dentition, (2) Haim-Munk syndrome (HMS) with additional features of arachnodactly, acroosteolysis, pesplanus, and onychogryphosis, (3) aggressive periodontitis 1 (AP1) characterized by severe and protracted gingival infections, leading to tooth loss. All three phenotypes are associated with autosomal recessive inheritance."
      },
      "child_count": 3,
      "reference_id": "MONDO:0800465"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4686,
      "label": "periodontal disorder"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16630,
      "label": "functional neutrophil defect"
    },
    {
      "id": 17917,
      "label": "diffuse palmoplantar keratoderma"
    },
    {
      "id": 17972,
      "label": "disorder of lysosomal-related organelles"
    },
    {
      "id": 25051,
      "label": "CTSC-related disorder"
    }
  ]
}