{
  "id": 19395,
  "label": "xeroderma pigmentosum",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019600",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "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": 9965,
      "label": "xeroderma pigmentosum, autosomal dominant, mild",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19395
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024638",
          "MEDGEN:395440",
          "MESH:C565989",
          "OMIM:194400",
          "UMLS:C1860231"
        ],
        "synonyms": [
          "xeroderma pigmentosum, autosomal dominant, mild"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008690"
    },
    {
      "id": 11388,
      "label": "xeroderma pigmentosum group A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19395
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110843",
          "GARD:0005624",
          "MEDGEN:82775",
          "NCIT:C3965",
          "OMIM:278700",
          "Orphanet:276249",
          "SCTID:43477006",
          "UMLS:C0268135"
        ],
        "synonyms": [
          "XP-A",
          "XP1",
          "XPA",
          "XPA xeroderma pigmentosum",
          "xeroderma pigmentosum 1",
          "xeroderma pigmentosum caused by mutation in XPA",
          "xeroderma pigmentosum group A",
          "xeroderma pigmentosum group type A",
          "xeroderma pigmentosum, complementation group type a",
          "xeroderma pigmentosum, group A",
          "XP, group A",
          "xeroderma pigmentosum, complementation group A",
          "xeroderma pigmentosum, type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010210"
    },
    {
      "id": 11389,
      "label": "xeroderma pigmentosum group C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19395
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010211"
    },
    {
      "id": 11390,
      "label": "xeroderma pigmentosum group D",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16889,
        19395
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110845",
          "GARD:0016452",
          "MEDGEN:75656",
          "MESH:C562591",
          "NCIT:C3967",
          "OMIM:278730",
          "Orphanet:276258",
          "SCTID:68637004",
          "UMLS:C0268138"
        ],
        "synonyms": [
          "ERCC2 xeroderma pigmentosum",
          "XP-D",
          "XP4",
          "XPD",
          "XPDC",
          "xeroderma pigmentosum caused by mutation in ERCC2",
          "xeroderma pigmentosum group D",
          "xeroderma pigmentosum group type D",
          "xeroderma pigmentosum, complementation group type D",
          "xeroderma pigmentosum, group D",
          "XP, Group D",
          "XP, Group H",
          "XP, Group H, formerly",
          "XP4 xeroderma pigmentosum VIII",
          "XP4 xeroderma pigmentosum VIII, formerly",
          "xeroderma pigmentosum 4",
          "xeroderma pigmentosum, complementation group D"
        ],
        "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 ERCC2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010212"
    },
    {
      "id": 11391,
      "label": "xeroderma pigmentosum group E",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19395
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110846",
          "GARD:0005627",
          "MEDGEN:341219",
          "MESH:C564732",
          "NCIT:C114771",
          "OMIM:278740",
          "Orphanet:276261",
          "SCTID:56048001",
          "UMLS:C1848411"
        ],
        "synonyms": [
          "XP-E",
          "XP5",
          "XPE",
          "xeroderma pigmentosum group E",
          "xeroderma pigmentosum group type E",
          "xeroderma pigmentosum, complementation group type E",
          "xeroderma pigmentosum, group E, DDB-negative subtype",
          "XP, Group E",
          "XPe",
          "xeroderma pigmentosum 5",
          "xeroderma pigmentosum, complementation group E",
          "xeroderma pigmentosum, type 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010213"
    },
    {
      "id": 11392,
      "label": "xeroderma pigmentosum variant type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19395
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010214"
    },
    {
      "id": 11393,
      "label": "xeroderma pigmentosum group F",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16889,
        19395
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010215"
    },
    {
      "id": 11394,
      "label": "xeroderma pigmentosum group G",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10189,
        16889,
        19395
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010216"
    },
    {
      "id": 13579,
      "label": "xeroderma pigmentosum group B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16889,
        19395
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110850",
          "GARD:0005625",
          "MEDGEN:78643",
          "MESH:C562590",
          "NCIT:C3966",
          "OMIM:610651",
          "Orphanet:276252",
          "SCTID:1073003",
          "UMLS:C0268136"
        ],
        "synonyms": [
          "ERCC3 xeroderma pigmentosum",
          "XP, Group B",
          "XP-B",
          "XPB",
          "XPBC",
          "xeroderma pigmentosum caused by mutation in ERCC3",
          "xeroderma pigmentosum group B",
          "xeroderma pigmentosum group type B",
          "xeroderma pigmentosum, complementation group type B",
          "xeroderma pigmentosum, group B",
          "XPB/CS",
          "xeroderma pigmentosum B/Cockayne syndrome",
          "xeroderma pigmentosum, complementation group B",
          "xeroderma pigmentosum, type 2"
        ],
        "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 ERCC3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012531"
    },
    {
      "id": 26404,
      "label": "xeroderma pigmentosum, complementation group J",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19395
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIM:621435"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0980987"
    }
  ],
  "roots": [
    {
      "id": 16625,
      "label": "hereditary photodermatosis"
    },
    {
      "id": 20416,
      "label": "DNA repair disease"
    }
  ]
}