{
  "id": 17140,
  "label": "localized junctional epidermolysis bullosa, non-Herlitz type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016673",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10423,
      "label": "junctional epidermolysis bullosa, non-Herlitz type",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17889
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0009180"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10423,
      "label": "junctional epidermolysis bullosa, non-Herlitz type"
    }
  ]
}