{
  "id": 17887,
  "label": "epidermolysis bullosa simplex",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017610",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 20,
  "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": 8930,
      "label": "epidermolysis bullosa simplex 1A, generalized severe",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060735",
          "GARD:0002141",
          "ICD9:771.2",
          "MEDGEN:38194",
          "OMIM:131760",
          "Orphanet:79396",
          "SCTID:254179000",
          "UMLS:C0079295"
        ],
        "synonyms": [
          "EBS, generalised severe",
          "EBS, generalized severe",
          "EBSDM",
          "epidermolysis bullosa simplex 1A, generalized severe",
          "generalised severe epidermolysis bullosa simplex",
          "Dowling-Meara type epidermolysis bullosa simplex",
          "EBS-DM",
          "epidermolysis bullosa herpetiformis, Dowling-Meara type",
          "epidermolysis bullosa simplex, Dowling-Meara type",
          "epidermolysis bullosa simplex, generalised severe",
          "epidermolysis bullosa simplex, generalized severe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007550"
    },
    {
      "id": 8931,
      "label": "epidermolysis bullosa simplex 1C, localized",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080510",
          "GARD:0002146",
          "ICD9:757.39",
          "MEDGEN:87016",
          "OMIM:131800",
          "Orphanet:79400",
          "SCTID:294705005",
          "UMLS:C0080333"
        ],
        "synonyms": [
          "EBS-loc",
          "epidermolysis bullosa simplex 1C, localized",
          "epidermolysis bullosa simplex of palms and soles",
          "epidermolysis bullosa simplex, Weber-Cockayne type",
          "localised epidermolysis bullosa simplex",
          "localized epidermolysis bullosa simplex",
          "EBS, acral form",
          "Weber-Cockayne syndrome",
          "Weber-Cockayne type epidermolysis bullosa simplex",
          "epidermolysis bullosa of hands and feet",
          "epidermolysis bullosa simplex, localised",
          "epidermolysis bullosa simplex, localized"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007551"
    },
    {
      "id": 8934,
      "label": "epidermolysis bullosa simplex 1B, generalized intermediate",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080511",
          "GARD:0002147",
          "ICD9:757.39",
          "MEDGEN:1794134",
          "OMIM:131900",
          "Orphanet:79399",
          "SCTID:90496008",
          "UMLS:C5561924"
        ],
        "synonyms": [
          "EBS, generalised intermediate",
          "EBS, generalized intermediate",
          "epidermolysis bullosa simplex 1B, generalized intermediate",
          "epidermolysis bullosa simplex, Kobner type",
          "epidermolysis bullosa simplex, Koebner type",
          "epidermolysis bullosa simplex, Köbner type",
          "generalised EBS, non-Dowling-Meara type",
          "generalised epidermolysis bullosa simplex, non-Dowling-Meara type",
          "generalized EBS, non-Dowling-Meara type",
          "generalized epidermolysis bullosa simplex, non-Dowling-Meara type",
          "EBS, generalised",
          "EBS, generalized",
          "EBS-K",
          "epidermolysis bullosa simplex, generalised",
          "epidermolysis bullosa simplex, generalised intermediate",
          "epidermolysis bullosa simplex, generalised non-Dowling-Meara",
          "epidermolysis bullosa simplex, generalized",
          "epidermolysis bullosa simplex, generalized intermediate",
          "epidermolysis bullosa simplex, generalized non-Dowling-Meara",
          "generalised EBS",
          "generalized EBS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007554"
    },
    {
      "id": 8935,
      "label": "epidermolysis bullosa simplex 5A, Ogna type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060736",
          "GARD:0002148",
          "ICD9:757.39",
          "MEDGEN:98488",
          "MESH:C535962",
          "OMIM:131950",
          "Orphanet:79401",
          "SCTID:398071000",
          "UMLS:C0432317"
        ],
        "synonyms": [
          "EBSOG",
          "epidermolysis bullosa simplex 5A, Ogna type",
          "epidermolysis bullosa simplex, Ogna type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007555"
    },
    {
      "id": 8936,
      "label": "epidermolysis bullosa simplex 2F, with mottled pigmentation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111346",
          "GARD:0009737",
          "ICD9:757.39",
          "MEDGEN:140934",
          "MESH:C535959",
          "OMIM:131960",
          "Orphanet:79397",
          "SCTID:254180002",
          "UMLS:C0432316"
        ],
        "synonyms": [
          "EBS-MP",
          "epidermolysis bullosa simplex 2F, with mottled pigmentation",
          "epidermolysis bullosa simplex with mottled pigmentation",
          "EBS with mottled pigmentation",
          "EBSMP",
          "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering",
          "speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007556"
    },
    {
      "id": 10424,
      "label": "epidermolysis bullosa simplex 5B, with muscular dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16084,
        16784,
        17887,
        29296
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090017",
          "GARD:0002137",
          "MEDGEN:418981",
          "MESH:C535955",
          "NANDO:2201376",
          "OMIM:226670",
          "Orphanet:257",
          "SCTID:723308003",
          "UMLS:C2931072"
        ],
        "synonyms": [
          "EBS-MD",
          "epidermolysis bullosa simplex 5B, with muscular dystrophy",
          "epidermolysis bullosa simplex and limb-girdle muscular dystrophy",
          "epidermolysis bullosa simplex with muscular dystrophy",
          "limb-girdle muscular dystrophy with epidermolysis bullosa simplex",
          "EBSMD",
          "Epidermolysa bullosa simplex and limb girdle muscular dystrophy",
          "Epidermolysa bullosa simplex with muscular dystrophy",
          "MD-EBS",
          "MDEBS",
          "epidermolysis bullosa simplex - limb girdle muscular dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009181"
    },
    {
      "id": 12104,
      "label": "epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016778",
          "MEDGEN:811576",
          "MESH:C563408",
          "OMIM:601001",
          "Orphanet:89838",
          "UMLS:C3715082"
        ],
        "synonyms": [
          "EBS, autosomal recessive K14",
          "EBS-AR KRT14",
          "KRT14-related autosomal recessive EBS",
          "KRT14-related autosomal recessive epidermolysis bullosa simplex",
          "KRT14-related epidermolysis bullosa simplex",
          "epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive",
          "epidermolysis bullosa simplex, autosomal recessive type 1",
          "EBSB1",
          "epidermolysis bullosa simplex, autosomal recessive 1",
          "epidermolysis bullosa simplex, autosomal recessive K14"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010976"
    },
    {
      "id": 13252,
      "label": "epidermolysis bullosa simplex 7, with nephropathy and deafness",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017367",
          "MEDGEN:323004",
          "MESH:C563798",
          "OMIM:609057",
          "Orphanet:300333",
          "UMLS:C1836823"
        ],
        "synonyms": [
          "epidermolysis bullosa simplex 7, with nephropathy and deafness",
          "nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome",
          "nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome",
          "nephropathy with pretibial epidermolysis bullosa and deafness"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012190"
    },
    {
      "id": 13317,
      "label": "epidermolysis bullosa simplex 2E, with migratory circinate erythema",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016990",
          "MEDGEN:324475",
          "MESH:C563730",
          "OMIM:609352",
          "Orphanet:158681",
          "SCTID:716700003",
          "UMLS:C1836284"
        ],
        "synonyms": [
          "EBS-migr",
          "epidermolysis bullosa simplex 2E, with migratory circinate erythema",
          "epidermolysis bullosa simplex with migratory circinate erythema"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012258"
    },
    {
      "id": 13847,
      "label": "epidermolysis bullosa simplex 5C, with pyloric atresia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17887,
        29296
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016991",
          "MEDGEN:436922",
          "MESH:C567408",
          "OMIM:612138",
          "Orphanet:158684",
          "SCTID:716701004",
          "UMLS:C2677349"
        ],
        "synonyms": [
          "EBS-PA",
          "epidermolysis bullosa simplex 5C, with pyloric atresia",
          "epidermolysis bullosa simplex with pyloric atresia",
          "EBS with pyloric atresia",
          "EBSPA"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012807"
    },
    {
      "id": 15024,
      "label": "epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017691",
          "MEDGEN:767281",
          "OMIM:615028",
          "Orphanet:412189",
          "UMLS:C3554367"
        ],
        "synonyms": [
          "EBS-AR exophilin 5",
          "epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive",
          "epidermolysis bullosa simplex due to exophilin 5 deficiency",
          "EBNS",
          "epidermolysis bullosa, nonspecific, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014014"
    },
    {
      "id": 15187,
      "label": "epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017690",
          "MEDGEN:815800",
          "OMIM:615425",
          "Orphanet:412181",
          "UMLS:C3809470"
        ],
        "synonyms": [
          "DST-related epidermolysis bullosa simplex",
          "EBS-AR BP230",
          "epidermolysis bullosa simplex 3, localised or generalised intermediate, with bp230 deficiency",
          "epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency",
          "epidermolysis bullosa simplex due to BP230 deficiency",
          "epidermolysis bullosa simplex, autosomal recessive type 2",
          "EBSB2",
          "epidermolysis bullosa simplex, autosomal recessive 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014180"
    },
    {
      "id": 15656,
      "label": "epidermolysis bullosa simplex with nail dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17887,
        29296
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025010",
          "MEDGEN:906476",
          "OMIM:616487",
          "UMLS:C4225309"
        ],
        "synonyms": [
          "epidermolysis bullosa simplex 5D, generalised intermediate, autosomal recessive",
          "epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive",
          "epidermolysis bullosa simplex with nail dystrophy",
          "EBSND"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized skin blistering associated with severe nail dystrophy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014661"
    },
    {
      "id": 15982,
      "label": "epidermolysis bullosa simplex 6, generalized, with scarring and hair loss",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        17887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017951",
          "MEDGEN:934598",
          "OMIM:617294",
          "Orphanet:508529",
          "UMLS:C4310631"
        ],
        "synonyms": [
          "EBSSH",
          "epidermolysis bullosa simplex 6, generalized, with scarring and hair loss",
          "epidermolysis bullosa simplex, generalized, with scarring and hair loss",
          "epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH",
          "generalised basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss",
          "generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015006"
    },
    {
      "id": 16362,
      "label": "suprabasal epidermolysis bullosa simplex",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025064",
          "MEDGEN:1388459",
          "Orphanet:158661",
          "SCTID:724840004",
          "UMLS:C4511300",
          "icd11.foundation:1980336421"
        ],
        "synonyms": [
          "epidermis suprabasal layer epidermolysis bullosa simplex",
          "epidermolysis bullosa simplex of epidermis suprabasal layer"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes."
      },
      "child_count": 3,
      "reference_id": "MONDO:0015550"
    },
    {
      "id": 17016,
      "label": "epidermolysis bullosa simplex with anodontia/hypodontia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018766",
          "MEDGEN:609450",
          "Orphanet:2325",
          "UMLS:C0432313"
        ],
        "synonyms": [
          "Gamborg-Nielsen syndrome",
          "Kallin syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016514"
    },
    {
      "id": 21944,
      "label": "epidermolysis bullosa simplex 2A, generalized severe",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025580",
          "OMIM:619555"
        ],
        "synonyms": [
          "EBS2A"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030489"
    },
    {
      "id": 21967,
      "label": "epidermolysis bullosa simplex 2B, generalized intermediate",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025593",
          "MEDGEN:1794219",
          "OMIM:619588",
          "UMLS:C5562009"
        ],
        "synonyms": [
          "EBS2B"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030525"
    },
    {
      "id": 21968,
      "label": "epidermolysis bullosa simplex 2C, localized",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025594",
          "MEDGEN:1794221",
          "OMIM:619594",
          "UMLS:C5562011"
        ],
        "synonyms": [
          "EBS2C"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030527"
    },
    {
      "id": 21974,
      "label": "epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025598",
          "MEDGEN:1794224",
          "OMIM:619599",
          "UMLS:C5562014"
        ],
        "synonyms": [
          "EBS2D"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030535"
    }
  ],
  "roots": [
    {
      "id": 19133,
      "label": "inherited epidermolysis bullosa"
    }
  ]
}