{
  "id": 11394,
  "label": "xeroderma pigmentosum group G",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010216",
  "properties": {
    "xrefs": [
      "DOID:0110849",
      "GARD:0005629",
      "MEDGEN:75657",
      "MESH:C562593",
      "NCIT:C3969",
      "OMIM:278780",
      "Orphanet:276267",
      "SCTID:36454001",
      "UMLS:C0268141"
    ],
    "synonyms": [
      "ERCC5 xeroderma pigmentosum",
      "XP-G",
      "XP7",
      "XPG",
      "xeroderma pigmentosum caused by mutation in ERCC5",
      "xeroderma pigmentosum group G",
      "xeroderma pigmentosum group type G",
      "xeroderma pigmentosum, complementation group type G",
      "xeroderma pigmentosum, group G",
      "xeroderma pigmentosum, group G/Cockayne syndrome",
      "XP, Group G",
      "xeroderma pigmentosum 7",
      "xeroderma pigmentosum complementation group G",
      "xeroderma pigmentosum type 7",
      "xeroderma pigmentosum, complementation group G",
      "xeroderma pigmentosum, type G/Cockayne syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10189,
      "label": "COFS syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        16704,
        20416
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080910",
          "GARD:0006027",
          "MEDGEN:1762238",
          "NCIT:C3817",
          "NORD:913",
          "OMIMPS:214150",
          "Orphanet:1466",
          "UMLS:C5399761"
        ],
        "synonyms": [
          "COFS",
          "Cerebro Oculo Facio Skeletal Syndrome",
          "Pena-Shokeir syndrome type 2",
          "cerebro-oculo-facio-skeletal syndrome",
          "cerebrooculofacioskeletal syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement."
      },
      "child_count": 15,
      "reference_id": "MONDO:0008926"
    },
    {
      "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": 10189,
      "label": "COFS syndrome"
    },
    {
      "id": 16889,
      "label": "xeroderma pigmentosum-Cockayne syndrome complex"
    },
    {
      "id": 19395,
      "label": "xeroderma pigmentosum"
    }
  ]
}