{
  "id": 16362,
  "label": "suprabasal epidermolysis bullosa simplex",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015550",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 12574,
      "label": "epidermolysis bullosa simplex due to plakophilin deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16362,
        19138
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009705",
          "MEDGEN:388032",
          "MESH:C536183",
          "OMIM:604536",
          "Orphanet:158668",
          "SCTID:716699004",
          "UMLS:C1858302"
        ],
        "synonyms": [
          "McGrath syndrome",
          "ectodermal dysplasia-skin fragility syndrome",
          "Mcgrath syndrome",
          "ectodermal dysplasia - skin fragility syndrome",
          "ectodermal dysplasia skin fragility syndrome",
          "ectodermal dysplasia/skin fragility syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011472"
    },
    {
      "id": 12948,
      "label": "epidermolysis bullosa simplex superficialis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024830",
          "MEDGEN:334412",
          "MESH:C564368",
          "OMIM:607600",
          "Orphanet:89839",
          "UMLS:C1843477",
          "icd11.foundation:1738578678"
        ],
        "synonyms": [
          "EBSS",
          "epidermolysis bullosa simplex superficialis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011869"
    },
    {
      "id": 13379,
      "label": "lethal acantholytic epidermolysis bullosa",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009910",
          "MEDGEN:400622",
          "MESH:C535493",
          "OMIM:609638",
          "Orphanet:158687",
          "UMLS:C1864826"
        ],
        "synonyms": [
          "LAEB",
          "lethal acantholytic epidermolysis bullosa",
          "EBLA",
          "epidermolysis bullosa, lethal acantholytic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012323"
    }
  ],
  "roots": [
    {
      "id": 17887,
      "label": "epidermolysis bullosa simplex"
    }
  ]
}