{
  "id": 22826,
  "label": "localized dystrophic epidermolysis bullosa",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0035349",
  "properties": {
    "xrefs": [
      "GARD:0022388",
      "MEDGEN:634276",
      "Orphanet:595356",
      "UMLS:C0474885"
    ],
    "synonyms": [
      "localised DEB",
      "localized DEB"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). This disease can be inherited via autosomal dominant or autosomal recessive inheritance."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8026,
      "label": "epidermolysis bullosa dystrophica",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4959",
          "EFO:1000692",
          "GARD:0002150",
          "ICD10CM:Q81.2",
          "ICD9:757.39",
          "MEDGEN:37179",
          "MESH:D016108",
          "NCIT:C84691",
          "Orphanet:303",
          "SCTID:254185007",
          "UMLS:C0079294",
          "Wikipedia:Epidermolysis_bullosa_dystrophica",
          "icd11.foundation:1060981106"
        ],
        "synonyms": [
          "DEB",
          "dermolytic epidermolysis bullosa",
          "epidermolysis bullosa dystrophica",
          "epidermolysis bullosa, dermolytic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes."
      },
      "child_count": 12,
      "reference_id": "MONDO:0006543"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8026,
      "label": "epidermolysis bullosa dystrophica"
    }
  ]
}