{
  "id": 19151,
  "label": "recessive dystrophic epidermolysis bullosa inversa",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019310",
  "properties": {
    "xrefs": [
      "GARD:0016720",
      "MEDGEN:698413",
      "Orphanet:79409",
      "UMLS:C1275113",
      "icd11.foundation:495465277"
    ],
    "synonyms": [
      "RDEB-I",
      "dystrophic epidermolysis bullosa inversa",
      "inverse RDEB",
      "inverse recessive dystrophic epidermolysis bullosa"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10422,
      "label": "recessive dystrophic epidermolysis bullosa",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8026
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060642",
          "GARD:0006308",
          "ICD9:757.39",
          "MEDGEN:36311",
          "NANDO:1200238",
          "NANDO:2201383",
          "OMIM:226600",
          "Orphanet:79408",
          "SCTID:48528004",
          "UMLS:C0079474"
        ],
        "synonyms": [
          "EBD inversa",
          "RDEB generalisata gravis",
          "RDEB, Hallopeau-Siemens type",
          "RDEB-sev gen",
          "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis",
          "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type",
          "epidermolysis bullosa dystrophica, AR",
          "epidermolysis bullosa dystrophica, autosomal recessive, modifier of",
          "severe generalised RDEB",
          "severe generalised recessive dystrophic epidermolysis bullosa",
          "RDEB",
          "RDEB, severe generalised",
          "RDEB, severe generalized",
          "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)",
          "dystrophic epidermolysis bullosa, autosomal recessive",
          "epidermolysis bullosa dystrophica inversa, autosomal recessive",
          "epidermolysis bullosa dystrophica, Hallopeau-Siemens type",
          "epidermolysis bullosa dystrophica, autosomal recessive",
          "epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant",
          "epidermolysis bullosa dystrophica, generalised severe, autosomal recessive",
          "epidermolysis bullosa dystrophica, generalized severe, autosomal recessive",
          "recessive dystrophic epidermolysis bullosa, severe generalised",
          "recessive dystrophic epidermolysis bullosa, severe generalized"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement."
      },
      "child_count": 1,
      "reference_id": "MONDO:0009179"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10422,
      "label": "recessive dystrophic epidermolysis bullosa"
    }
  ]
}