{
  "id": 16363,
  "label": "acral dystrophic epidermolysis bullosa",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015552",
  "properties": {
    "xrefs": [
      "GARD:0020031",
      "MEDGEN:1387925",
      "Orphanet:158673",
      "SCTID:733638006",
      "UMLS:C4518087"
    ],
    "synonyms": [
      "DEB, acral",
      "DEB-ac"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet."
  },
  "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"
    }
  ]
}