{
  "id": 10420,
  "label": "late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009177",
  "properties": {
    "xrefs": [
      "GARD:0000299",
      "MEDGEN:341663",
      "MESH:C535492",
      "OMIM:226440",
      "Orphanet:231556",
      "UMLS:C1856969"
    ],
    "synonyms": [
      "epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders",
      "epidermolysis bullosa, late-onset localised junctional, with intellectual disability",
      "epidermolysis bullosa, late-onset localised junctional, with mental retardation",
      "epidermolysis bullosa, late-onset localized junctional, with intellectual disability",
      "epidermolysis bullosa, late-onset localized junctional, with mental retardation"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17889,
      "label": "junctional epidermolysis bullosa",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3209",
          "GARD:0002152",
          "MEDGEN:86898",
          "MESH:D016109",
          "NANDO:1200236",
          "NANDO:2201342",
          "NCIT:C90598",
          "OMIMPS:226650",
          "Orphanet:305",
          "SCTID:79855003",
          "UMLS:C0079301",
          "icd11.foundation:1501260457"
        ],
        "synonyms": [
          "EBJ",
          "JEB",
          "epidermolysis bullosa atrophicans",
          "junctional epidermolysis bullosa",
          "epidermolysis bullosa hereditaria letalis",
          "epidermolysis bullosa, junctional"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation."
      },
      "child_count": 15,
      "reference_id": "MONDO:0017612"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17889,
      "label": "junctional epidermolysis bullosa"
    }
  ]
}