{
  "id": 14893,
  "label": "epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013881",
  "properties": {
    "xrefs": [
      "GARD:0017377",
      "MEDGEN:1388385",
      "OMIM:614748",
      "Orphanet:306504",
      "UMLS:C4518785"
    ],
    "synonyms": [
      "JEB with respiratory and renal involvement",
      "JEB-RR",
      "congenital ILNEB syndrome",
      "congenital NEP syndrome",
      "congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome",
      "congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome",
      "congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome",
      "ILNEB",
      "interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital",
      "junctional epidermolysis bullosa with respiratory and renal involvement"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair."
  },
  "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"
    }
  ]
}