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Rothmund-Thomson syndrome type 2

MedicalCondition developmental_defect_during_embryogenesis Q55786172
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Rothmund-Thomson syndrome type 2

Summary

Rothmund-Thomson syndrome type 2 is a developmental defect during embryogenesis[1].

Key Facts

  • Rothmund-Thomson syndrome type 2's instance of is recorded as developmental defect during embryogenesis[2].
  • Rothmund-Thomson syndrome type 2's instance of is recorded as class of disease[3].
  • Rothmund-Thomson syndrome type 2 is a type of polymalformative genetic syndrome with increased risk of developing cancer[4].
  • Rothmund-Thomson syndrome type 2 is a type of Rothmund-Thomson syndrome[5].
  • Rothmund-Thomson syndrome type 2 is a type of disease with potential neoplastic degeneration associated with ocular features[6].
  • Rothmund-Thomson syndrome type 2's genetic association is recorded as RECQL4[7].
  • Rothmund-Thomson syndrome type 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_221016[8].

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [2] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  7. [8] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

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Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). Rothmund-Thomson syndrome type 2. Retrieved May 3, 2026, from https://4ort.xyz/entity/rothmund-thomson-syndrome-type-2
MLA “Rothmund-Thomson syndrome type 2.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/rothmund-thomson-syndrome-type-2.
BibTeX @misc{4ortxyz_rothmund-thomson-syndrome-type-2_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Rothmund-Thomson syndrome type 2}}, year = {2026}, url = {https://4ort.xyz/entity/rothmund-thomson-syndrome-type-2}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Rothmund-Thomson syndrome type 2 — https://4ort.xyz/entity/rothmund-thomson-syndrome-type-2 (retrieved 2026-05-03)

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Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 1d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id → MONDO_0016369
    Genetic association → RECQL4
    Orphanet id → 221016
    Instance of → developmental defect during embryogenesis, class of disease
    + 8 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39742|batch #39742]]: subclass of disease, not instance"
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