{
  "id": 16889,
  "label": "xeroderma pigmentosum-Cockayne syndrome complex",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016354",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "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": 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": 24916,
      "label": "xeroderma pigmentosum, type F/Cockayne syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16889
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026496",
          "MEDGEN:812895",
          "UMLS:C3806565"
        ],
        "synonyms": [
          "XPF/CS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0800313"
    },
    {
      "id": 24917,
      "label": "xeroderma pigmentosum, type G/Cockayne syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16889
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026497",
          "MEDGEN:409618",
          "UMLS:C1968561"
        ],
        "synonyms": [
          "XPG/CS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0800314"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16625,
      "label": "hereditary photodermatosis"
    }
  ]
}