{
  "id": 16901,
  "label": "Rothmund-Thomson syndrome type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016369",
  "properties": {
    "xrefs": [
      "GARD:0017135",
      "MEDGEN:1684753",
      "NCIT:C178827",
      "OMIM:268400",
      "Orphanet:221016",
      "UMLS:C5203410",
      "icd11.foundation:2111040755"
    ],
    "synonyms": [
      "RTS2",
      "Rothmund-Thomson syndrome, type 2",
      "poikiloderma of Rothmund-Thomson type 2"
    ],
    "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": "Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7019,
      "label": "eye disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4171,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1242",
          "DOID:5614",
          "EFO:0003966",
          "ICD9:360",
          "ICD9:360.29",
          "ICD9:360.89",
          "ICD9:360.9",
          "ICD9:379.8",
          "ICD9:379.90",
          "MEDGEN:5092",
          "MESH:D005128",
          "NCIT:C26767",
          "SCTID:371405004",
          "UMLS:C0015397"
        ],
        "synonyms": [
          "disease of eye",
          "disease of eyeball of camera-type eye",
          "disease or disorder of eyeball of camera-type eye",
          "disorder of eye",
          "disorder of eyeball of camera-type eye",
          "eye disease",
          "eye disorder",
          "eyeball of camera-type eye disease",
          "eyeball of camera-type eye disease or disorder",
          "globe disease",
          "disease of eyeball",
          "disorder of eye proper",
          "disorder of eyeball",
          "disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma."
      },
      "child_count": 240,
      "reference_id": "MONDO:0005328"
    },
    {
      "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": 7019,
      "label": "eye disorder"
    },
    {
      "id": 11197,
      "label": "Rothmund-Thomson syndrome"
    }
  ]
}