{
  "id": 11197,
  "label": "Rothmund-Thomson syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010002",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        20011,
        20301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019921",
          "MEDGEN:14326",
          "MESH:D009386",
          "NCIT:C3266",
          "Orphanet:140162",
          "SCTID:699346009",
          "UMLS:C0027672"
        ],
        "synonyms": [
          "cancer syndrome, hereditary",
          "cancer syndromes, hereditary",
          "familial neoplastic syndrome",
          "familial tumor syndrome",
          "familial tumour syndrome",
          "hereditary cancer syndrome",
          "hereditary cancer syndromes",
          "hereditary neoplastic syndrome",
          "hereditary neoplastic syndromes",
          "hereditary tumor syndrome",
          "hereditary tumour syndrome",
          "inherited cancer syndrome",
          "inherited cancer-predisposing syndrome",
          "neoplastic syndrome, hereditary",
          "syndrome, hereditary cancer",
          "syndrome, hereditary neoplastic",
          "syndromes, hereditary cancer",
          "syndromes, hereditary neoplastic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The inherited predisposition toward getting a tumor."
      },
      "child_count": 351,
      "reference_id": "MONDO:0015356"
    },
    {
      "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"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    }
  ],
  "children": [
    {
      "id": 15349,
      "label": "Rothmund-Thomson syndrome type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11197,
        24802
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027860",
          "MEDGEN:862776",
          "OMIM:615789",
          "UMLS:C4014339"
        ],
        "synonyms": [
          "Rothmund-Thomson syndrome, type 3",
          "short stature with microcephaly and distinctive facies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014347"
    },
    {
      "id": 16900,
      "label": "Rothmund-Thomson syndrome type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11197
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017134",
          "MEDGEN:1684764",
          "NCIT:C178826",
          "OMIM:618625",
          "Orphanet:221008",
          "UMLS:C5231433",
          "icd11.foundation:717855330"
        ],
        "synonyms": [
          "RTS1",
          "Rothmund-Thomson syndrome, type 1",
          "poikiloderma of Rothmund-Thomson type 1",
          "Poikiloderma Atrophicans and Cataract"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Rothmund-Thomson syndrome type 1 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, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016368"
    },
    {
      "id": 16901,
      "label": "Rothmund-Thomson syndrome type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7019,
        11197
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016369"
    },
    {
      "id": 25981,
      "label": "Rothmund-Thomson syndrome type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11197
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0970950"
    }
  ],
  "roots": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    },
    {
      "id": 16625,
      "label": "hereditary photodermatosis"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}