{
  "id": 15187,
  "label": "epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014180",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": [],
  "roots": [
    {
      "id": 17887,
      "label": "epidermolysis bullosa simplex"
    }
  ]
}