{
  "id": 10426,
  "label": "junctional epidermolysis bullosa with pyloric atresia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009183",
  "properties": {
    "xrefs": [
      "DOID:0060733",
      "GARD:0009694",
      "MEDGEN:1810975",
      "MESH:C535377",
      "NANDO:2201380",
      "OMIM:226730",
      "Orphanet:79403",
      "UMLS:C5676875",
      "icd11.foundation:1877890811"
    ],
    "synonyms": [
      "Carmi syndrome",
      "JEB-PA",
      "epidermolysis bullosa junctionalis with pyloric atresia",
      "epidermolysis bullosa, junctional, with pyloric stenosis",
      "junctional epidermolysis bullosa with pyloric atresia",
      "EB-Pa-ACC",
      "JEB-Pa",
      "aplasia cutis congenita with gastrointestinal atresia",
      "epidermolysis bullosa JUNCTIONALIS with pyloric atresia",
      "epidermolysis bullosa with pyloric atresia",
      "epidermolysis bullosa, junctional, with pyloric atresia",
      "epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita",
      "junctional epidermolysis bullosa - pyloric atresia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17889,
      "label": "junctional epidermolysis bullosa",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3209",
          "GARD:0002152",
          "MEDGEN:86898",
          "MESH:D016109",
          "NANDO:1200236",
          "NANDO:2201342",
          "NCIT:C90598",
          "OMIMPS:226650",
          "Orphanet:305",
          "SCTID:79855003",
          "UMLS:C0079301",
          "icd11.foundation:1501260457"
        ],
        "synonyms": [
          "EBJ",
          "JEB",
          "epidermolysis bullosa atrophicans",
          "junctional epidermolysis bullosa",
          "epidermolysis bullosa hereditaria letalis",
          "epidermolysis bullosa, junctional"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation."
      },
      "child_count": 15,
      "reference_id": "MONDO:0017612"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17889,
      "label": "junctional epidermolysis bullosa"
    }
  ]
}