{
  "id": 8025,
  "label": "epidermolysis bullosa",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0006541",
  "properties": {
    "xrefs": [
      "DOID:2730",
      "EFO:1000690",
      "GARD:0006359",
      "ICD10CM:Q81",
      "ICD10WHO:Q81",
      "ICD9:757.39",
      "MEDGEN:41832",
      "MESH:D004820",
      "NANDO:1200234",
      "NANDO:2100284",
      "NANDO:2201000",
      "NCIT:C67383",
      "SCTID:61003004",
      "UMLS:C0014527",
      "Wikipedia:Epidermolysis_bullosa"
    ],
    "synonyms": [
      "epidermolysis bullosa",
      "EB"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 8092,
      "label": "vesiculobullous skin disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2731",
          "EFO:1000774",
          "MEDGEN:20778",
          "MESH:D012872",
          "UMLS:C0037275"
        ],
        "synonyms": [
          "vesiculobullous skin disease",
          "Sneddon Wilkinson disease",
          "Sneddon-Wilkinson disease",
          "skin diseases, vesicular",
          "subcorneal pustular dermatoses",
          "subcorneal pustular dermatosis",
          "bullous dermatoses",
          "bullous skin disease",
          "bullous skin diseases",
          "dermatoses, bullous",
          "dermatoses, subcorneal pustular",
          "dermatoses, vesiculobullous",
          "dermatosis, subcorneal pustular",
          "pustular dermatoses, subcorneal",
          "pustular dermatosis, subcorneal",
          "skin disease, bullous",
          "skin disease, vesicular",
          "skin disease, vesiculobullous",
          "skin diseases, bullous",
          "vesicular skin disease",
          "vesicular skin diseases",
          "vesiculobullous dermatoses",
          "vesiculobullous skin diseases"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)"
      },
      "child_count": 8,
      "reference_id": "MONDO:0006617"
    }
  ],
  "children": [
    {
      "id": 18715,
      "label": "acquired epidermolysis bullosa",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8025,
        19177
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4313",
          "EFO:1000691",
          "GARD:0006360",
          "ICD10CM:L12.3",
          "ICD9:695.19",
          "MEDGEN:37178",
          "MESH:D016107",
          "MedDRA:10056508",
          "NANDO:1200635",
          "NCIT:C84690",
          "Orphanet:46487",
          "SCTID:2772003",
          "UMLS:C0079293",
          "icd11.foundation:2034586329"
        ],
        "synonyms": [
          "EBA",
          "acquired epidermolysis bullosa",
          "epidermolysis bullosa Aquisita",
          "epidermolysis bullosa acquisita",
          "EB acquisita"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018747"
    },
    {
      "id": 19133,
      "label": "inherited epidermolysis bullosa",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8025,
        19129,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018992",
          "ICD9:757.39",
          "MEDGEN:697573",
          "Orphanet:79361",
          "SCTID:402781004",
          "UMLS:C1274224"
        ],
        "synonyms": [
          "epidermolysis bullosa hereditaria",
          "hereditary epidermolysis bullosa"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues."
      },
      "child_count": 12,
      "reference_id": "MONDO:0019276"
    }
  ],
  "roots": [
    {
      "id": 8092,
      "label": "vesiculobullous skin disease"
    }
  ]
}