{
  "id": 19133,
  "label": "inherited epidermolysis bullosa",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019276",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 8025,
      "label": "epidermolysis bullosa",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8092
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0006541"
    },
    {
      "id": 19129,
      "label": "epidermal disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1842776",
          "Orphanet:79353",
          "UMLS:C5681492"
        ],
        "synonyms": [
          "epidermal disease",
          "rare epidermal disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A skin disease that involves the epidermis."
      },
      "child_count": 25,
      "reference_id": "MONDO:0019268"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    }
  ],
  "children": [
    {
      "id": 8026,
      "label": "epidermolysis bullosa dystrophica",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4959",
          "EFO:1000692",
          "GARD:0002150",
          "ICD10CM:Q81.2",
          "ICD9:757.39",
          "MEDGEN:37179",
          "MESH:D016108",
          "NCIT:C84691",
          "Orphanet:303",
          "SCTID:254185007",
          "UMLS:C0079294",
          "Wikipedia:Epidermolysis_bullosa_dystrophica",
          "icd11.foundation:1060981106"
        ],
        "synonyms": [
          "DEB",
          "dermolytic epidermolysis bullosa",
          "epidermolysis bullosa dystrophica",
          "epidermolysis bullosa, dermolytic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes."
      },
      "child_count": 12,
      "reference_id": "MONDO:0006543"
    },
    {
      "id": 9567,
      "label": "Kindler syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060472",
          "GARD:0004391",
          "MEDGEN:96060",
          "MESH:C536321",
          "NANDO:1200239",
          "OMIM:173650",
          "Orphanet:2908",
          "SCTID:238836000",
          "UMLS:C0406557",
          "icd11.foundation:726317303"
        ],
        "synonyms": [
          "KS",
          "Kindler syndrome",
          "poikiloderma of Kindler",
          "KINDLER syndrome",
          "KNDLRS",
          "bullous acrokeratotic poikiloderma of Kindler and Weary",
          "congenital bullous poikiloderma",
          "poikiloderma, congenital, with bullae, Weary type",
          "poikiloderma, hereditary acrokeratotic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes."
      },
      "child_count": 1,
      "reference_id": "MONDO:0008260"
    },
    {
      "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"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 8025,
      "label": "epidermolysis bullosa"
    },
    {
      "id": 19129,
      "label": "epidermal disease"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}