{
  "id": 15982,
  "label": "epidermolysis bullosa simplex 6, generalized, with scarring and hair loss",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015006",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 17887,
      "label": "epidermolysis bullosa simplex"
    }
  ]
}