{
  "id": 12961,
  "label": "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011884",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17919,
      "label": "focal palmoplantar keratoderma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19132
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 12,
      "reference_id": "MONDO:0017672"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 17919,
      "label": "focal palmoplantar keratoderma"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    }
  ]
}