{
  "id": 25981,
  "label": "Rothmund-Thomson syndrome type 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0970950",
  "properties": {
    "xrefs": [
      "GARD:0028083",
      "MEDGEN:1854023",
      "OMIM:620819",
      "UMLS:C5935619"
    ],
    "synonyms": [
      "Rothmund-Thomson syndrome, type 4"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11197,
      "label": "Rothmund-Thomson syndrome"
    }
  ]
}