{
  "id": 17889,
  "label": "junctional epidermolysis bullosa",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017612",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 15,
  "parents": [
    {
      "id": 19133,
      "label": "inherited epidermolysis bullosa",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8025,
        19129,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018992",
          "ICD9:757.39",
          "MEDGEN:697573",
          "Orphanet:79361",
          "SCTID:402781004",
          "UMLS:C1274224"
        ],
        "synonyms": [
          "epidermolysis bullosa hereditaria",
          "hereditary epidermolysis bullosa"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues."
      },
      "child_count": 12,
      "reference_id": "MONDO:0019276"
    }
  ],
  "children": [
    {
      "id": 10420,
      "label": "late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17889
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000299",
          "MEDGEN:341663",
          "MESH:C535492",
          "OMIM:226440",
          "Orphanet:231556",
          "UMLS:C1856969"
        ],
        "synonyms": [
          "epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders",
          "epidermolysis bullosa, late-onset localised junctional, with intellectual disability",
          "epidermolysis bullosa, late-onset localised junctional, with mental retardation",
          "epidermolysis bullosa, late-onset localized junctional, with intellectual disability",
          "epidermolysis bullosa, late-onset localized junctional, with mental retardation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009177"
    },
    {
      "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"
    },
    {
      "id": 10425,
      "label": "junctional epidermolysis bullosa Herlitz type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17889
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060737",
          "GARD:0002153",
          "ICD10CM:Q81.1",
          "MEDGEN:36328",
          "NANDO:1201065",
          "NANDO:2200119",
          "NANDO:2201378",
          "OMIM:226700",
          "Orphanet:79404",
          "SCTID:400140006",
          "UMLS:C0079683"
        ],
        "synonyms": [
          "Herlitz-Pearson-type epidermolysis bullosa",
          "JEB, generalised severe",
          "JEB, generalized severe",
          "JEB-H",
          "JEB-Herlitz type",
          "epidermolysis bullosa letalis",
          "junctional epidermolysis bullosa generalisata gravis",
          "junctional epidermolysis bullosa, Herlitz-Pearson type",
          "Herlitz-Pearson type epidermolysis bullosa",
          "epidermolysis bullosa Junctionalis, Herlitz type",
          "epidermolysis bullosa, junctional, Herlitz type",
          "epidermolysis bullosa, junctional, Herlitz-Pearson type",
          "junctional epidermolysis bullosa, Herlitz type",
          "junctional epidermolysis bullosa, generalised severe",
          "junctional epidermolysis bullosa, generalized severe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009182"
    },
    {
      "id": 10426,
      "label": "junctional epidermolysis bullosa with pyloric atresia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17889
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009183"
    },
    {
      "id": 10737,
      "label": "laryngo-onycho-cutaneous syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        6815,
        17889
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000368",
          "MEDGEN:272227",
          "MESH:C537032",
          "OMIM:245660",
          "Orphanet:2407",
          "SCTID:722675000",
          "UMLS:C1328355"
        ],
        "synonyms": [
          "LOC syndrome",
          "Shabbir syndrome",
          "laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome",
          "laryngo-onycho-cutaneous syndrome",
          "logic syndrome",
          "LARYNGOONYCHOCUTANEOUS syndrome",
          "LOCS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009513"
    },
    {
      "id": 14893,
      "label": "epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17889
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017377",
          "MEDGEN:1388385",
          "OMIM:614748",
          "Orphanet:306504",
          "UMLS:C4518785"
        ],
        "synonyms": [
          "JEB with respiratory and renal involvement",
          "JEB-RR",
          "congenital ILNEB syndrome",
          "congenital NEP syndrome",
          "congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome",
          "congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome",
          "congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome",
          "ILNEB",
          "interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital",
          "junctional epidermolysis bullosa with respiratory and renal involvement"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013881"
    },
    {
      "id": 19149,
      "label": "junctional epidermolysis bullosa inversa",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17889
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002143",
          "MEDGEN:382142",
          "Orphanet:79405",
          "UMLS:C2673609",
          "icd11.foundation:1191822552"
        ],
        "synonyms": [
          "EBJ-I",
          "JEB-I",
          "inverse JEB"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019308"
    },
    {
      "id": 19150,
      "label": "late-onset junctional epidermolysis bullosa",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17889
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012921",
          "MEDGEN:930393",
          "Orphanet:79406",
          "SCTID:719432000",
          "UMLS:C4304724"
        ],
        "synonyms": [
          "EB progressive",
          "JEB-lo"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019309"
    },
    {
      "id": 22034,
      "label": "epidermolysis bullosa, junctional 2A, intermediate",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17889
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025629",
          "MEDGEN:1807376",
          "OMIM:619783",
          "UMLS:C5676936"
        ],
        "synonyms": [
          "JEB2A",
          "epidermolysis bullosa, junctional 2A, generalised intermediate",
          "epidermolysis bullosa, junctional 2A, generalized intermediate",
          "epidermolysis bullosa, junctional 2A, intermediate",
          "epidermolysis bullosa, junctional 2A, non-herlitz IIA"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030746"
    },
    {
      "id": 22035,
      "label": "epidermolysis bullosa, junctional 2B, severe",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17889
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025630",
          "MEDGEN:1805467",
          "OMIM:619784",
          "UMLS:C5676937"
        ],
        "synonyms": [
          "JEB2B",
          "epidermolysis bullosa, junctional 2B, generalised severe",
          "epidermolysis bullosa, junctional 2B, generalized severe",
          "epidermolysis bullosa, junctional 2B, herlitz IIA",
          "epidermolysis bullosa, junctional 2B, severe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030747"
    },
    {
      "id": 22036,
      "label": "epidermolysis bullosa, junctional 3A, intermediate",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17889
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025631",
          "MEDGEN:1812940",
          "OMIM:619785",
          "UMLS:C5676938"
        ],
        "synonyms": [
          "JEB3A",
          "epidermolysis bullosa, junctional 3A, generalised intermediate",
          "epidermolysis bullosa, junctional 3A, generalized intermediate",
          "epidermolysis bullosa, junctional 3A, intermediate",
          "epidermolysis bullosa, junctional 3A, non-herlitz IIA"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030748"
    },
    {
      "id": 22037,
      "label": "epidermolysis bullosa, junctional 3B, severe",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17889
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025632",
          "MEDGEN:1807897",
          "OMIM:619786",
          "UMLS:C5676939"
        ],
        "synonyms": [
          "JEB3B",
          "epidermolysis bullosa, junctional 3B, generalised severe",
          "epidermolysis bullosa, junctional 3B, generalized severe",
          "epidermolysis bullosa, junctional 3B, herlitz IIA",
          "epidermolysis bullosa, junctional 3B, severe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030749"
    },
    {
      "id": 22038,
      "label": "epidermolysis bullosa, junctional 4, intermediate",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17889
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025633",
          "MEDGEN:382015",
          "OMIM:619787",
          "UMLS:C2608084"
        ],
        "synonyms": [
          "JEB4",
          "epidermolysis bullosa, generalised atrophic benign",
          "epidermolysis bullosa, generalized atrophic benign",
          "epidermolysis bullosa, junctional 4, intermediate",
          "epidermolysis bullosa, junctional 4, non-herlitz IIA",
          "epidermolysis bullosa, junctional, localisata variant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030750"
    },
    {
      "id": 22040,
      "label": "epidermolysis bullosa, junctional 5A, intermediate",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17889
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025634",
          "MEDGEN:1811851",
          "OMIM:619816",
          "UMLS:C5676956"
        ],
        "synonyms": [
          "JEB5A",
          "epidermolysis bullosa, junctional 5A, generalised intermediate",
          "epidermolysis bullosa, junctional 5A, generalized intermediate",
          "epidermolysis bullosa, junctional 5A, intermediate",
          "epidermolysis bullosa, junctional 5A, non-herlitz IIA"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030768"
    },
    {
      "id": 25375,
      "label": "epidermolysis bullosa, junctional 6, with pyloric atresia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17889
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026673",
          "MEDGEN:1803348",
          "OMIM:619817",
          "UMLS:C5676957"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859233"
    }
  ],
  "roots": [
    {
      "id": 19133,
      "label": "inherited epidermolysis bullosa"
    }
  ]
}