{
  "id": 8929,
  "label": "generalized dominant dystrophic epidermolysis bullosa",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007549",
  "properties": {
    "xrefs": [
      "DOID:0080224",
      "GARD:0002139",
      "ICD9:757.39",
      "MEDGEN:140935",
      "OMIM:131750",
      "Orphanet:231568",
      "SCTID:75875004",
      "UMLS:C0432322"
    ],
    "synonyms": [
      "DDEB, Pasini and Cockayne-Touraine types",
      "DDEB, generalised",
      "DDEB, generalized",
      "DDEB-gen",
      "autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types",
      "epidermolysis bullosa dystrophica, AD",
      "Albopapuloid dominant dystrophic epidermolysis bullosa",
      "DDEB",
      "autosomal dominant dystrophic epidermolysis bullosa",
      "dominant dystrophic epidermolysis bullosa",
      "dominant dystrophic epidermolysis bullosa, generalised",
      "dominant dystrophic epidermolysis bullosa, generalized",
      "dystrophic epidermolysis bullosa, autosomal dominant",
      "epidermolysis bullosa dystrophica with subcorneal cleavage",
      "epidermolysis bullosa dystrophica, Cockayne-Touraine type",
      "epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)",
      "epidermolysis bullosa dystrophica, Pasini type",
      "epidermolysis bullosa dystrophica, Pasini type (formerly)",
      "epidermolysis bullosa dystrophica, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails."
  },
  "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"
    }
  ]
}