{
  "id": 17656,
  "label": "exfoliative ichthyosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017339",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 17594,
      "label": "autosomal recessive congenital ichthyosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16624
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060655",
          "GARD:0021106",
          "MEDGEN:697564",
          "NANDO:1200615",
          "NANDO:2200991",
          "OMIMPS:242300",
          "Orphanet:281097",
          "UMLS:C1274215",
          "icd11.foundation:430849255"
        ],
        "synonyms": [
          "ARCI",
          "autosomal recessive inherited ichthyosis",
          "ichthyosis, congenital, autosomal recessive",
          "inherited ichthyosis, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Autosomal recessive form of inherited ichthyosis."
      },
      "child_count": 13,
      "reference_id": "MONDO:0017265"
    }
  ],
  "children": [
    {
      "id": 9155,
      "label": "superficial epidermolytic ichthyosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17595,
        17656
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007813"
    },
    {
      "id": 13011,
      "label": "peeling skin syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17656,
        19185
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070523",
          "GARD:0018426",
          "MEDGEN:895692",
          "MESH:C564309",
          "OMIM:607936",
          "UMLS:C4225407"
        ],
        "synonyms": [
          "CSTA peeling skin syndrome",
          "peeling skin syndrome 4",
          "peeling skin syndrome caused by mutation in CSTA",
          "peeling skin syndrome type 4",
          "PSS4",
          "ichthyosis bullosa of Siemens-like",
          "ichthyosis, exfoliative, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011937"
    },
    {
      "id": 15902,
      "label": "peeling skin syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17656,
        19185
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070524",
          "GARD:0018427",
          "MEDGEN:934677",
          "OMIM:617115",
          "UMLS:C4310710"
        ],
        "synonyms": [
          "PSS5",
          "SERPINB8 peeling skin syndrome",
          "peeling skin syndrome 5",
          "peeling skin syndrome 5; PSS5",
          "peeling skin syndrome caused by mutation in SERPINB8",
          "peeling skin syndrome type 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014923"
    }
  ],
  "roots": [
    {
      "id": 17594,
      "label": "autosomal recessive congenital ichthyosis"
    }
  ]
}