{
  "id": 19185,
  "label": "peeling skin syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019347",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 16624,
      "label": "inherited ichthyosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19130,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020261",
          "ICD10CM:Q80",
          "ICD9:757.1",
          "MEDGEN:797407",
          "MedDRA:10021202",
          "NANDO:1200609",
          "NANDO:2100283",
          "Orphanet:183435",
          "SCTID:13059002",
          "UMLS:C0856562"
        ],
        "synonyms": [
          "congenital ichthyosis of skin",
          "genetic ichthyosis",
          "hereditary ichthyosis (disease)",
          "inherited genetic ichthyosis",
          "congenital ichthyosis",
          "fish scale disease",
          "fish skin",
          "ichthyosis congenita"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome."
      },
      "child_count": 26,
      "reference_id": "MONDO:0015947"
    }
  ],
  "children": [
    {
      "id": 11227,
      "label": "generalized peeling skin syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19185
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012862",
          "MEDGEN:930825",
          "Orphanet:263543",
          "SCTID:718749004",
          "UMLS:C4305156"
        ],
        "synonyms": [
          "generalised PSS",
          "generalised deciduous skin",
          "generalized PSS",
          "generalized deciduous skin",
          "peeling skin syndrome type 1",
          "PSS1",
          "peeling skin syndrome 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy."
      },
      "child_count": 3,
      "reference_id": "MONDO:0010033"
    },
    {
      "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": 13399,
      "label": "acral peeling skin syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19185
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070521",
          "GARD:0012863",
          "MEDGEN:342862",
          "MESH:C536316",
          "OMIM:609796",
          "Orphanet:263534",
          "SCTID:709416009",
          "UMLS:C1853354"
        ],
        "synonyms": [
          "acral PSS",
          "acral deciduous skin",
          "acral peeling skin syndrome",
          "localised PSS",
          "localised deciduous skin",
          "localized PSS",
          "localized deciduous skin",
          "peeling skin syndrome type 2",
          "PSS2",
          "peeling skin syndrome 2",
          "peeling skin syndrome, acral type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012345"
    },
    {
      "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"
    },
    {
      "id": 23649,
      "label": "peeling skin syndrome 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19185
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070525",
          "GARD:0025988",
          "MEDGEN:1648406",
          "OMIM:618084",
          "UMLS:C4748093"
        ],
        "synonyms": [
          "peeling skin syndrome 6",
          "PSS6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054852"
    }
  ],
  "roots": [
    {
      "id": 16624,
      "label": "inherited ichthyosis"
    }
  ]
}