{
  "id": 8026,
  "label": "epidermolysis bullosa dystrophica",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0006543",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 12,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 8928,
      "label": "transient bullous dermolysis of the newborn",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8026
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111345",
          "GARD:0010010",
          "MEDGEN:343607",
          "MESH:C536979",
          "OMIM:131705",
          "Orphanet:79411",
          "UMLS:C1851573"
        ],
        "synonyms": [
          "transient bullous dermolysis of the newborn",
          "transient bullous of the newborn",
          "MONDON",
          "TBDN",
          "dystrophic epidermolysis bullosa, neonatal",
          "epidermolysis bullosa dystrophica, dominant neonatal form",
          "epidermolysis bullosa dystrophica, neonatal form"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007548"
    },
    {
      "id": 8929,
      "label": "generalized dominant dystrophic epidermolysis bullosa",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8026
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080224",
          "GARD:0002139",
          "ICD9:757.39",
          "MEDGEN:140935",
          "OMIM:131750",
          "Orphanet:231568",
          "SCTID:75875004",
          "UMLS:C0432322"
        ],
        "synonyms": [
          "DDEB, Pasini and Cockayne-Touraine types",
          "DDEB, generalised",
          "DDEB, generalized",
          "DDEB-gen",
          "autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types",
          "epidermolysis bullosa dystrophica, AD",
          "Albopapuloid dominant dystrophic epidermolysis bullosa",
          "DDEB",
          "autosomal dominant dystrophic epidermolysis bullosa",
          "dominant dystrophic epidermolysis bullosa",
          "dominant dystrophic epidermolysis bullosa, generalised",
          "dominant dystrophic epidermolysis bullosa, generalized",
          "dystrophic epidermolysis bullosa, autosomal dominant",
          "epidermolysis bullosa dystrophica with subcorneal cleavage",
          "epidermolysis bullosa dystrophica, Cockayne-Touraine type",
          "epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)",
          "epidermolysis bullosa dystrophica, Pasini type",
          "epidermolysis bullosa dystrophica, Pasini type (formerly)",
          "epidermolysis bullosa dystrophica, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007549"
    },
    {
      "id": 8932,
      "label": "pretibial dystrophic epidermolysis bullosa",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8026
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080988",
          "GARD:0002155",
          "ICD9:757.39",
          "MEDGEN:98154",
          "MESH:C535494",
          "OMIM:131850",
          "Orphanet:79410",
          "SCTID:67653003",
          "UMLS:C0432321"
        ],
        "synonyms": [
          "DEB-Pt",
          "pretibial DEB",
          "Deb, pretibial",
          "dystrophic epidermolysis bullosa, pretibial",
          "epidermolysis bullosa dystrophica, pretibial",
          "epidermolysis bullosa, pretibial",
          "pretibial epidermolysis bullosa"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007552"
    },
    {
      "id": 10421,
      "label": "epidermolysis bullosa dystrophica Neurotrophica",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8026
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024651",
          "ICD9:757.39",
          "MEDGEN:78666",
          "MESH:C562637",
          "OMIM:226500",
          "SCTID:254176007",
          "UMLS:C0268368"
        ],
        "synonyms": [
          "epidermolysis bullosa dystrophica Neurotrophica",
          "epidermolysis bullosa progressiva, recessive",
          "epidermolysis bullosa with congenital deafness"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009178"
    },
    {
      "id": 10422,
      "label": "recessive dystrophic epidermolysis bullosa",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8026
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060642",
          "GARD:0006308",
          "ICD9:757.39",
          "MEDGEN:36311",
          "NANDO:1200238",
          "NANDO:2201383",
          "OMIM:226600",
          "Orphanet:79408",
          "SCTID:48528004",
          "UMLS:C0079474"
        ],
        "synonyms": [
          "EBD inversa",
          "RDEB generalisata gravis",
          "RDEB, Hallopeau-Siemens type",
          "RDEB-sev gen",
          "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis",
          "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type",
          "epidermolysis bullosa dystrophica, AR",
          "epidermolysis bullosa dystrophica, autosomal recessive, modifier of",
          "severe generalised RDEB",
          "severe generalised recessive dystrophic epidermolysis bullosa",
          "RDEB",
          "RDEB, severe generalised",
          "RDEB, severe generalized",
          "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)",
          "dystrophic epidermolysis bullosa, autosomal recessive",
          "epidermolysis bullosa dystrophica inversa, autosomal recessive",
          "epidermolysis bullosa dystrophica, Hallopeau-Siemens type",
          "epidermolysis bullosa dystrophica, autosomal recessive",
          "epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant",
          "epidermolysis bullosa dystrophica, generalised severe, autosomal recessive",
          "epidermolysis bullosa dystrophica, generalized severe, autosomal recessive",
          "recessive dystrophic epidermolysis bullosa, severe generalised",
          "recessive dystrophic epidermolysis bullosa, severe generalized"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement."
      },
      "child_count": 1,
      "reference_id": "MONDO:0009179"
    },
    {
      "id": 12503,
      "label": "dystrophic epidermolysis bullosa pruriginosa",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8026
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016779",
          "ICD9:757.39",
          "MEDGEN:266151",
          "MESH:C563192",
          "OMIM:604129",
          "Orphanet:89843",
          "SCTID:403810008",
          "UMLS:C1275114"
        ],
        "synonyms": [
          "DEB, pruriginosa",
          "DEB-Pr",
          "dystrophic epidermolysis bullosa pruriginosa",
          "pruriginous dystrophic epidermolysis bullosa",
          "Deb, pruriginosa",
          "epidermolysis bullosa pruriginosa"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011398"
    },
    {
      "id": 16363,
      "label": "acral dystrophic epidermolysis bullosa",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8026
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020031",
          "MEDGEN:1387925",
          "Orphanet:158673",
          "SCTID:733638006",
          "UMLS:C4518087"
        ],
        "synonyms": [
          "DEB, acral",
          "DEB-ac"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015552"
    },
    {
      "id": 16364,
      "label": "dystrophic epidermolysis bullosa, nails only",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8026
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020032",
          "MEDGEN:928216",
          "Orphanet:158676",
          "SCTID:722436002",
          "UMLS:C4302547"
        ],
        "synonyms": [
          "DEB-na",
          "nails-only DDEB",
          "nails-only DEB",
          "dominant dystrophic epidermolysis bullosa, nails only"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015553"
    },
    {
      "id": 19332,
      "label": "centripetalis recessive dystrophic epidermolysis bullosa",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8026
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025138",
          "MEDGEN:1377762",
          "Orphanet:89841",
          "SCTID:725419003",
          "UMLS:C4511056"
        ],
        "synonyms": [
          "RDEB, centripetalis",
          "RDEB-Ce",
          "centripetal dystrophic epidermolysis bullosa",
          "centripetal recessive dystrophic epidermolysis bullosa"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019521"
    },
    {
      "id": 19333,
      "label": "recessive dystrophic epidermolysis bullosa-generalized other",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8026
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012794",
          "MEDGEN:1392226",
          "Orphanet:89842",
          "UMLS:C4511044"
        ],
        "synonyms": [
          "RDEB generalisata mitis",
          "RDEB, generalised intermediate",
          "RDEB, generalized intermediate",
          "RDEB, non-Hallopeau-Siemens type",
          "RDEB-O",
          "RDEB-generalized other",
          "autosomal recessive dystrophic epidermolysis bullosa generalisata mitis",
          "autosomal recessive dystrophic epidermolysis bullosa, generalised other",
          "autosomal recessive dystrophic epidermolysis bullosa, generalized other",
          "generalised mitis RDEB",
          "generalized mitis RDEB",
          "recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type",
          "recessive dystrophic epidermolysis bullosa, generalised intermediate",
          "recessive dystrophic epidermolysis bullosa, generalized intermediate"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019522"
    },
    {
      "id": 22826,
      "label": "localized dystrophic epidermolysis bullosa",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8026
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022388",
          "MEDGEN:634276",
          "Orphanet:595356",
          "UMLS:C0474885"
        ],
        "synonyms": [
          "localised DEB",
          "localized DEB"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). This disease can be inherited via autosomal dominant or autosomal recessive inheritance."
      },
      "child_count": 0,
      "reference_id": "MONDO:0035349"
    },
    {
      "id": 24884,
      "label": "epidermolysis bullosa dystrophica with subcorneal cleavage",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8026
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026481",
          "MEDGEN:436495",
          "UMLS:C2675683"
        ],
        "synonyms": [
          "EBDSC"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0800206"
    }
  ],
  "roots": [
    {
      "id": 19133,
      "label": "inherited epidermolysis bullosa"
    }
  ]
}