{
  "id": 13847,
  "label": "epidermolysis bullosa simplex 5C, with pyloric atresia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012807",
  "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."
  },
  "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"
    },
    {
      "id": 29296,
      "label": "PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder",
          "qualitative or quantitative defects of plectin"
        ],
        "definition": "A spectrum of disease associated with loss or disrupted function of the PLEC gene. These disorders primarily affect the skin and muscles, leading to a range of symptoms including skin blistering (EBS), progressive muscle weakness (muscular dystrophy), and other complications."
      },
      "child_count": 4,
      "reference_id": "MONDO:1060109"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17887,
      "label": "epidermolysis bullosa simplex"
    },
    {
      "id": 29296,
      "label": "PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder"
    }
  ]
}