{
  "id": 12104,
  "label": "epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010976",
  "properties": {
    "xrefs": [
      "GARD:0016778",
      "MEDGEN:811576",
      "MESH:C563408",
      "OMIM:601001",
      "Orphanet:89838",
      "UMLS:C3715082"
    ],
    "synonyms": [
      "EBS, autosomal recessive K14",
      "EBS-AR KRT14",
      "KRT14-related autosomal recessive EBS",
      "KRT14-related autosomal recessive epidermolysis bullosa simplex",
      "KRT14-related epidermolysis bullosa simplex",
      "epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive",
      "epidermolysis bullosa simplex, autosomal recessive type 1",
      "EBSB1",
      "epidermolysis bullosa simplex, autosomal recessive 1",
      "epidermolysis bullosa simplex, autosomal recessive K14"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17887,
      "label": "epidermolysis bullosa simplex",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4644",
          "GARD:0010752",
          "ICD10CM:Q81.0",
          "ICD9:757.39",
          "MEDGEN:86896",
          "MESH:D016110",
          "NANDO:1200235",
          "NANDO:2201341",
          "NANDO:2201375",
          "NCIT:C84692",
          "OMIMPS:131760",
          "Orphanet:304",
          "SCTID:67144006",
          "UMLS:C0079298",
          "icd11.foundation:1860717527"
        ],
        "synonyms": [
          "EBS",
          "EEB",
          "epidermolysis bullosa simplex",
          "epidermolysis bullosa intraepidermic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma."
      },
      "child_count": 20,
      "reference_id": "MONDO:0017610"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17887,
      "label": "epidermolysis bullosa simplex"
    }
  ]
}