{
  "id": 14848,
  "label": "UV-sensitive syndrome 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013834",
  "properties": {
    "xrefs": [
      "GARD:0015828",
      "MEDGEN:766242",
      "NCIT:C173107",
      "OMIM:614640",
      "UMLS:C3553328"
    ],
    "synonyms": [
      "UV-sensitive syndrome 3",
      "UV-sensitive syndrome caused by mutation in UVSSA",
      "UV-sensitive syndrome type 3",
      "UVSSA UV-sensitive syndrome",
      "UVSS3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16550,
      "label": "UV-sensitive syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        16625,
        20416
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060240",
          "GARD:0010947",
          "ICD9:702.8",
          "MEDGEN:322222",
          "MESH:C563466",
          "OMIMPS:600630",
          "Orphanet:178338",
          "SCTID:698253007",
          "UMLS:C1833561"
        ],
        "synonyms": [
          "UV sensitive syndrome",
          "UVSS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population."
      },
      "child_count": 9,
      "reference_id": "MONDO:0015797"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16550,
      "label": "UV-sensitive syndrome"
    }
  ]
}