{
  "id": 19333,
  "label": "recessive dystrophic epidermolysis bullosa-generalized other",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019522",
  "properties": {
    "xrefs": [
      "GARD:0012794",
      "MEDGEN:1392226",
      "Orphanet:89842",
      "UMLS:C4511044"
    ],
    "synonyms": [
      "RDEB generalisata mitis",
      "RDEB, generalised intermediate",
      "RDEB, generalized intermediate",
      "RDEB, non-Hallopeau-Siemens type",
      "RDEB-O",
      "RDEB-generalized other",
      "autosomal recessive dystrophic epidermolysis bullosa generalisata mitis",
      "autosomal recessive dystrophic epidermolysis bullosa, generalised other",
      "autosomal recessive dystrophic epidermolysis bullosa, generalized other",
      "generalised mitis RDEB",
      "generalized mitis RDEB",
      "recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type",
      "recessive dystrophic epidermolysis bullosa, generalised intermediate",
      "recessive dystrophic epidermolysis bullosa, generalized intermediate"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities."
  },
  "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"
    }
  ]
}