{
  "id": 11393,
  "label": "xeroderma pigmentosum group F",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010215",
  "properties": {
    "xrefs": [
      "DOID:0110848",
      "GARD:0005628",
      "MEDGEN:120612",
      "MESH:C562592",
      "NCIT:C3968",
      "OMIM:278760",
      "Orphanet:276264",
      "SCTID:42530008",
      "UMLS:C0268140"
    ],
    "synonyms": [
      "ERCC4 xeroderma pigmentosum",
      "XP, group F",
      "XP-F",
      "XP6",
      "XPF",
      "xeroderma pigmentosum caused by mutation in ERCC4",
      "xeroderma pigmentosum group F",
      "xeroderma pigmentosum group type F",
      "xeroderma pigmentosum, complementation group type F",
      "xeroderma pigmentosum, group F",
      "xeroderma pigmentosum 6",
      "xeroderma pigmentosum, complementation group F",
      "xeroderma pigmentosum, type 6",
      "xeroderma pigmentosum, type F/Cockayne syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16889,
      "label": "xeroderma pigmentosum-Cockayne syndrome complex",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16625
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017130",
          "MEDGEN:930080",
          "NCIT:C156031",
          "Orphanet:220295",
          "UMLS:C4304411",
          "icd11.foundation:2002862606"
        ],
        "synonyms": [
          "XP/CS complex"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS)."
      },
      "child_count": 12,
      "reference_id": "MONDO:0016354"
    },
    {
      "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": 16889,
      "label": "xeroderma pigmentosum-Cockayne syndrome complex"
    },
    {
      "id": 19395,
      "label": "xeroderma pigmentosum"
    }
  ]
}