{
  "id": 11388,
  "label": "xeroderma pigmentosum group A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010210",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 19395,
      "label": "xeroderma pigmentosum"
    }
  ]
}