Nijmegen breakage syndrome-like disorder

human disease
MedicalCondition developmental_defect_during_embryogenesis Q55395613
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Nijmegen breakage syndrome-like disorder

Summary

Nijmegen breakage syndrome-like disorder is a developmental defect during embryogenesis[1].

Key Facts

  • Nijmegen breakage syndrome-like disorder's instance of is recorded as developmental defect during embryogenesis[2].
  • Nijmegen breakage syndrome-like disorder's instance of is recorded as rare disease[3].
  • Nijmegen breakage syndrome-like disorder's instance of is recorded as class of disease[4].
  • Nijmegen breakage syndrome-like disorder is a type of combined immunodeficiency[5].
  • Nijmegen breakage syndrome-like disorder is a type of rare genetic developmental defect during embryogenesis[6].
  • Nijmegen breakage syndrome-like disorder is a type of inherited tumor[7].
  • Nijmegen breakage syndrome-like disorder is a type of developmental anomaly of metabolic origin[8].
  • Nijmegen breakage syndrome-like disorder is a type of multiple congenital anomalies/dysmorphic syndrome without intellectual disability[9].
  • Nijmegen breakage syndrome-like disorder is a type of DNA repair defect other than combined T-cell and B-cell immunodeficiencies[10].
  • Nijmegen breakage syndrome-like disorder is a type of polymalformative genetic syndrome with increased risk of developing cancer[11].
  • Nijmegen breakage syndrome-like disorder's NCI Thesaurus ID is recorded as C153178[12].
  • Nijmegen breakage syndrome-like disorder's genetic association is recorded as RAD50[13].
  • Nijmegen breakage syndrome-like disorder's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_240760[14].

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] . wikidata.org.
  4. [5] . wikidata.org.
  5. [6] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [9] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [10] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [12] . wikidata.org.
  12. [13] . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  13. [14] . 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). Nijmegen breakage syndrome-like disorder. Retrieved May 3, 2026, from https://4ort.xyz/entity/nijmegen-breakage-syndrome-like-disorder
MLA “Nijmegen breakage syndrome-like disorder.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/nijmegen-breakage-syndrome-like-disorder.
BibTeX @misc{4ortxyz_nijmegen-breakage-syndrome-like-disorder_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Nijmegen breakage syndrome-like disorder}}, year = {2026}, url = {https://4ort.xyz/entity/nijmegen-breakage-syndrome-like-disorder}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Nijmegen breakage syndrome-like disorder — https://4ort.xyz/entity/nijmegen-breakage-syndrome-like-disorder (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_0013118
    Genetic association RAD50
    Orphanet id 240760
    Instance of developmental defect during embryogenesis, rare disease, class of disease
    + 9 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"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.