{
  "id": 16625,
  "label": "hereditary photodermatosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015951",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    }
  ],
  "children": [
    {
      "id": 10141,
      "label": "Bloom syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        7217,
        7611,
        16625,
        18950,
        20044,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2717",
          "GARD:0000915",
          "ICD10CM:Q82.2",
          "ICD9:757.39",
          "MEDGEN:2685",
          "MESH:D001816",
          "NANDO:1200333",
          "NANDO:2200707",
          "NCIT:C2903",
          "NORD:863",
          "OMIM:210900",
          "Orphanet:125",
          "SCTID:4434006",
          "UMLS:C0005859",
          "icd11.foundation:1838213890"
        ],
        "synonyms": [
          "BSyn",
          "Bloom syndrome",
          "Bloom-Torre-Machacek syndrome",
          "congenital telangiectatic erythema syndrome",
          "BLM",
          "BLS",
          "BS",
          "MGRISCE1",
          "congenital telangiectatic erythema",
          "growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability",
          "microcephaly, growth restriction, and increased sister chromatid exchange 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008876"
    },
    {
      "id": 11197,
      "label": "Rothmund-Thomson syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16218,
        16625,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2732",
          "GARD:0004392",
          "ICD9:759.89",
          "MEDGEN:10819",
          "MESH:D011038",
          "NANDO:1200671",
          "NCIT:C3335",
          "NORD:1678",
          "OMIMPS:268400",
          "Orphanet:2909",
          "SCTID:69093006",
          "UMLS:C0032339",
          "icd11.foundation:652761118"
        ],
        "synonyms": [
          "RTS",
          "Rothmund-Thomson syndrome",
          "poikiloderma of Rothmund-Thomson",
          "poikiloderma atrophicans and cataract",
          "poikiloderma congenitale"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers."
      },
      "child_count": 12,
      "reference_id": "MONDO:0010002"
    },
    {
      "id": 16550,
      "label": "UV-sensitive syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        16625,
        20416
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060240",
          "GARD:0010947",
          "ICD9:702.8",
          "MEDGEN:322222",
          "MESH:C563466",
          "OMIMPS:600630",
          "Orphanet:178338",
          "SCTID:698253007",
          "UMLS:C1833561"
        ],
        "synonyms": [
          "UV sensitive syndrome",
          "UVSS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population."
      },
      "child_count": 9,
      "reference_id": "MONDO:0015797"
    },
    {
      "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": 19020,
      "label": "inherited porphyria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16625,
        17981,
        22990
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13268",
          "GARD:0010353",
          "MEDGEN:698423",
          "MedDRA:10036181",
          "MedDRA:10061356",
          "NANDO:2200610",
          "Orphanet:738",
          "SCTID:371628009",
          "UMLS:C1275125"
        ],
        "synonyms": [
          "disorder of porphyrin and heme metabolism",
          "disorder of porphyrin metabolism",
          "porphyria",
          "hereditary porphyria",
          "Hematoporphyria",
          "Porphyrinopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both."
      },
      "child_count": 27,
      "reference_id": "MONDO:0019142"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}