{
  "id": 10423,
  "label": "junctional epidermolysis bullosa, non-Herlitz type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009180",
  "properties": {
    "xrefs": [
      "GARD:0024652",
      "ICD9:757.39",
      "MEDGEN:82798",
      "NANDO:1201066",
      "NANDO:2201379",
      "OMIM:226650",
      "Orphanet:89840",
      "SCTID:33662006",
      "UMLS:C0268374"
    ],
    "synonyms": [
      "JEN-nH",
      "JEB-I",
      "JEB-nH",
      "epidermolysis bullosa Junctionalis, Disentis type",
      "epidermolysis bullosa Junctionalis, non-Herlitz type",
      "epidermolysis bullosa Junctionalis, progressive",
      "epidermolysis bullosa Junctionalis, severe Nonlethal",
      "epidermolysis bullosa, generalised atrophic benign",
      "epidermolysis bullosa, generalized atrophic benign",
      "epidermolysis bullosa, junctional, Localisata variant",
      "epidermolysis bullosa, junctional, non-Herlitz type",
      "junctional epidermolysis bullosa inversa"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": [
    {
      "id": 17140,
      "label": "localized junctional epidermolysis bullosa, non-Herlitz type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10423
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012923",
          "MEDGEN:1814511",
          "Orphanet:251393",
          "UMLS:C5700116"
        ],
        "synonyms": [
          "JEB-nH loc"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016673"
    },
    {
      "id": 19148,
      "label": "generalized junctional epidermolysis bullosa non-Herlitz type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10423
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060738",
          "GARD:0012922",
          "MEDGEN:609458",
          "Orphanet:79402",
          "SCTID:724225008",
          "UMLS:C0432326"
        ],
        "synonyms": [
          "JEB, generalised intermediate",
          "JEB, generalized intermediate",
          "generalised atrophic benign epidermolysis bullosa",
          "generalised junctional epidermolysis bullosa, non-Herlitz type",
          "generalized atrophic benign epidermolysis bullosa",
          "generalized junctional epidermolysis bullosa, non-Herlitz type",
          "junctional epidermolysis bullosa generalisata mitis",
          "junctional epidermolysis bullosa, Disentis type",
          "junctional epidermolysis bullosa non-Herlitz type",
          "junctional epidermolysis bullosa, generalised intermediate",
          "junctional epidermolysis bullosa, generalized intermediate"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019307"
    }
  ],
  "roots": [
    {
      "id": 17889,
      "label": "junctional epidermolysis bullosa"
    }
  ]
}