{
  "id": 15902,
  "label": "peeling skin syndrome 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014923",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 19185,
      "label": "peeling skin syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16624
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060283",
          "GARD:0007347",
          "ICD9:757.39",
          "MEDGEN:336530",
          "NORD:1562",
          "OMIMPS:270300",
          "Orphanet:817",
          "SCTID:239065004",
          "UMLS:C1849193",
          "icd11.foundation:523640904"
        ],
        "synonyms": [
          "PSS",
          "deciduous skin",
          "familial continuous skin peeling syndrome",
          "idiopathic deciduous skin",
          "keratosis exfoliativa congenita",
          "peeling skin disease",
          "familial continuous skin peeling",
          "skin peeling syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS."
      },
      "child_count": 5,
      "reference_id": "MONDO:0019347"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17656,
      "label": "exfoliative ichthyosis"
    },
    {
      "id": 19185,
      "label": "peeling skin syndrome"
    }
  ]
}