{
  "id": 9155,
  "label": "superficial epidermolytic ichthyosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007813",
  "properties": {
    "xrefs": [
      "DOID:0060877",
      "GARD:0002966",
      "MEDGEN:98153",
      "MESH:D053560",
      "NANDO:1200613",
      "NANDO:2200990",
      "NCIT:C84777",
      "OMIM:146800",
      "Orphanet:455",
      "SCTID:254169002",
      "UMLS:C0432306",
      "icd11.foundation:842172475"
    ],
    "synonyms": [
      "SEI",
      "ichthyosis bullosa of Siemens",
      "superficial epidermolytic ichthyosis",
      "IBS",
      "bullous type of ichthyosis",
      "ichthyosis exfoliativa",
      "ichthyosis, bullous type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17595,
      "label": "keratinopathic ichthyosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16624
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021107",
          "MEDGEN:1393111",
          "NANDO:1200610",
          "NANDO:2200987",
          "Orphanet:281103",
          "SCTID:724837004",
          "UMLS:C4511307",
          "icd11.foundation:992865924"
        ],
        "synonyms": [
          "KPI"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0017266"
    },
    {
      "id": 17656,
      "label": "exfoliative ichthyosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017329",
          "MEDGEN:325027",
          "Orphanet:289586",
          "UMLS:C1838440"
        ],
        "synonyms": [
          "autosomal recessive exfoliative ichthyosis",
          "exfoliative ichthyosis",
          "ichthyosis exfoliativa"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment."
      },
      "child_count": 3,
      "reference_id": "MONDO:0017339"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17595,
      "label": "keratinopathic ichthyosis"
    },
    {
      "id": 17656,
      "label": "exfoliative ichthyosis"
    }
  ]
}