{
  "id": 11392,
  "label": "xeroderma pigmentosum variant type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010214",
  "properties": {
    "xrefs": [
      "DOID:0110847",
      "GARD:0005630",
      "MEDGEN:376352",
      "MESH:C536766",
      "NCIT:C141367",
      "OMIM:278750",
      "Orphanet:90342",
      "UMLS:C1848410"
    ],
    "synonyms": [
      "XPV",
      "photosensitivity with defective DNA synthesis",
      "xeroderma pigmentosum variant type",
      "xeroderma pigmentosum with normal DNA repair rates",
      "xeroderma pigmentosum variant",
      "xeroderma pigmentosum, variant type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19395,
      "label": "xeroderma pigmentosum",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16625,
        20416
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050427",
          "GARD:0007910",
          "ICD10CM:Q82.1",
          "MEDGEN:21943",
          "MESH:D014983",
          "MedDRA:10048220",
          "NANDO:1200608",
          "NANDO:2100286",
          "NANDO:2201002",
          "NCIT:C3452",
          "NORD:1870",
          "OMIMPS:278700",
          "Orphanet:910",
          "SCTID:44600005",
          "UMLS:C0043346",
          "icd11.foundation:1243068849"
        ],
        "synonyms": [
          "Kaposi dermatosis",
          "Kaposi disease",
          "XP",
          "angioma pigmentosum atrophicum",
          "atrophoderma pigmentosum",
          "melanosis lenticularis progressiva",
          "pigmented epitheliomatosis",
          "xeroderma of Kaposi",
          "xeroderma pigmentosum syndrome",
          "xeroderma pigmentosa"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV)."
      },
      "child_count": 20,
      "reference_id": "MONDO:0019600"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19395,
      "label": "xeroderma pigmentosum"
    }
  ]
}