{
  "id": 25051,
  "label": "CTSC-related disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800465",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        20277,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2121",
          "GARD:0006317",
          "ICD9:757.31",
          "MEDGEN:8544",
          "MESH:D004476",
          "MedDRA:10010452",
          "NCIT:C84683",
          "OMIMPS:305100",
          "Orphanet:79373",
          "SCTID:8654005",
          "UMLS:C0013575",
          "icd11.foundation:1156567558"
        ],
        "synonyms": [
          "ectodermal dysplasia",
          "ectodermal dysplasia (select examples)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures."
      },
      "child_count": 360,
      "reference_id": "MONDO:0019287"
    }
  ],
  "children": [
    {
      "id": 9533,
      "label": "periodontitis, aggressive 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25051,
        26375
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061237",
          "DOID:1474",
          "EFO:0006342",
          "GARD:0024610",
          "ICD9:523.5",
          "MESH:D010520",
          "OMIM:170650"
        ],
        "synonyms": [
          "periodontitis 1, juvenile",
          "periodontitis, aggressive, type 1",
          "periodontitis, aggressive, 1",
          "periodontitis, juvenile",
          "periodontitis, prepubertal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008226"
    },
    {
      "id": 10716,
      "label": "Papillon-Lefevre disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4686,
        7611,
        16630,
        17917,
        17972,
        25051
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009490"
    },
    {
      "id": 10717,
      "label": "Haim-Munk syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        17917,
        17972,
        25051
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000044",
          "MEDGEN:344539",
          "MESH:C537627",
          "NORD:1212",
          "OMIM:245010",
          "Orphanet:2342",
          "SCTID:719973009",
          "UMLS:C1855627"
        ],
        "synonyms": [
          "Haim-Munk syndrome",
          "keratosis palmoplantaris-periodontopathia-onychogryposis syndrome",
          "palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome",
          "palmoplantar keratoderma-periodontopathia-onychogryposis syndrome",
          "Cochin Jewish disorder",
          "HAIM-Munk syndrome",
          "HMS",
          "keratosis palmoplantaris with periodontopathia and onychogryposis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009491"
    }
  ],
  "roots": [
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    }
  ]
}