{
  "id": 16550,
  "label": "UV-sensitive syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015797",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 16625,
      "label": "hereditary photodermatosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020277",
          "MEDGEN:1842494",
          "Orphanet:183490",
          "UMLS:C5679594"
        ],
        "synonyms": [
          "photogenodermatosis",
          "photogénodermatose",
          "genetic photosensitivity",
          "genetic skin photosensitivity"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies."
      },
      "child_count": 6,
      "reference_id": "MONDO:0015951"
    },
    {
      "id": 20416,
      "label": "DNA repair disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0008499",
          "GARD:0025299",
          "MEDGEN:82774",
          "MESH:D049914",
          "NCIT:C7757",
          "UMLS:C0268134"
        ],
        "synonyms": [
          "DNA repair disorder",
          "deficiency of DNA repair",
          "disorder of DNA repair",
          "DNA Repairs, deficient",
          "DNA repair deficiency",
          "DNA repair deficiency disorders",
          "DNA repair, deficient",
          "DNA repair-deficiencies",
          "DNA repair-deficiency",
          "DNA repair-deficiency disorder",
          "Repairs, deficient DNA",
          "chromosome instability syndrome",
          "chromosome instability syndromes",
          "deficient DNA Repairs",
          "deficient DNA repair",
          "disorder, DNA repair-deficiency",
          "disorders, DNA repair-deficiency",
          "repair, deficient DNA",
          "syndrome, chromosome instability",
          "syndromes, chromosome instability"
        ],
        "definition": "A disease that has its basis in the disruption of DNA repair."
      },
      "child_count": 16,
      "reference_id": "MONDO:0021190"
    }
  ],
  "children": [
    {
      "id": 12042,
      "label": "UV-sensitive syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16550
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015320",
          "MEDGEN:764087",
          "NCIT:C173106",
          "OMIM:600630",
          "UMLS:C3551173"
        ],
        "synonyms": [
          "ERCC6 UV-sensitive syndrome",
          "UV-sensitive syndrome 1",
          "UV-sensitive syndrome caused by mutation in ERCC6",
          "UV-sensitive syndrome type 1",
          "UVSS1"
        ],
        "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 ERCC6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010909"
    },
    {
      "id": 14843,
      "label": "UV-sensitive syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16550
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015827",
          "MEDGEN:766212",
          "NCIT:C173110",
          "OMIM:614621",
          "UMLS:C3553298"
        ],
        "synonyms": [
          "ERCC8 UV-sensitive syndrome",
          "UV-sensitive syndrome 2",
          "UV-sensitive syndrome caused by mutation in ERCC8",
          "UV-sensitive syndrome type 2",
          "UVSS2"
        ],
        "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 ERCC8 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013829"
    },
    {
      "id": 14848,
      "label": "UV-sensitive syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16550
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013834"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16625,
      "label": "hereditary photodermatosis"
    },
    {
      "id": 20416,
      "label": "DNA repair disease"
    }
  ]
}