{
  "id": 11389,
  "label": "xeroderma pigmentosum group C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010211",
  "properties": {
    "xrefs": [
      "DOID:0110844",
      "GARD:0005626",
      "MEDGEN:416702",
      "MESH:C567886",
      "NCIT:C114770",
      "OMIM:278720",
      "Orphanet:276255",
      "SCTID:25784009",
      "UMLS:C2752147"
    ],
    "synonyms": [
      "XP-C",
      "XP3",
      "XPC",
      "XPCC",
      "xeroderma pigmentosum group C",
      "xeroderma pigmentosum group type C",
      "xeroderma pigmentosum, complementation group type C",
      "xeroderma pigmentosum, group C",
      "XP, Group C",
      "xeroderma pigmentosum 3",
      "xeroderma pigmentosum, complementation group C",
      "xeroderma pigmentosum, type 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair."
  },
  "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"
    }
  ]
}