Cornelia de Lange syndrome

genetic disease
MedicalCondition rare_disease Q1133289
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Cornelia de Lange syndrome

Summary

Cornelia de Lange syndrome is a rare disease[1]. It has Wikipedia articles in 18 language editions, a strong signal of global cultural recognition.[2]

Key Facts

  • Cornelia de Lange syndrome's instance of is recorded as rare disease[3].
  • Cornelia de Lange syndrome's instance of is recorded as class of disease[4].
  • Cornelia Catharina de Lange is named after Cornelia de Lange syndrome[5].
  • Cornelia de Lange syndrome is a type of syndrome[6].
  • Cornelia de Lange syndrome is a type of genetic disease[7].
  • Cornelia de Lange syndrome is a type of monogenic disease[8].
  • Cornelia de Lange syndrome is a type of cohesinopathy[9].
  • Cornelia de Lange syndrome is a type of disease[10].
  • Cornelia de Lange syndrome's Commons category is recorded as Cornelia de Lange syndrome[11].
  • Cornelia de Lange syndrome's symptoms and signs is recorded as intellectual disability[12].
  • Cornelia de Lange syndrome's NCI Thesaurus ID is recorded as C75016[13].
  • Cornelia de Lange syndrome's health specialty is recorded as medical genetics[14].
  • Cornelia de Lange syndrome's genetic association is recorded as SMC1A[15].
  • Cornelia de Lange syndrome's genetic association is recorded as RAD21[16].
  • Cornelia de Lange syndrome's genetic association is recorded as SMC3[17].
  • Cornelia de Lange syndrome's genetic association is recorded as HDAC8[18].
  • Cornelia de Lange syndrome's genetic association is recorded as NIPBL[19].
  • Cornelia de Lange syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_11725[20].
  • Cornelia de Lange syndrome's exact match is recorded as http://identifiers.org/doid/DOID:11725[21].
  • Cornelia de Lange syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_199[22].
  • Cornelia de Lange syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[23].

Why It Matters

Cornelia de Lange syndrome has Wikipedia articles in 18 language editions, a strong signal of global cultural recognition.[2] It is known by 22 alternative names across languages and contexts.[24]

References

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

Direct Wikidata claims

  1. [3] . wikidata.org.
  2. [4] . wikidata.org.
  3. [5] . wikidata.org.
  4. [6] . Disease Ontology. Retrieved . wikidata.org.
  5. [7] . Disease Ontology. Retrieved . wikidata.org.
  6. [8] . Disease Ontology. Retrieved . wikidata.org.
  7. [9] . wikidata.org.
  8. [10] . wikidata.org.
  9. [11] . wikidata.org.
  10. [12] . Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. wikidata.org.
  11. [13] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [14] . wikidata.org.
  13. [15] . X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. wikidata.org.
  14. [16] . RAD21 mutations cause a human cohesinopathy. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  15. [17] . Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  16. [18] . X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  17. [19] . NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  18. [20] . Disease Ontology. Retrieved . wikidata.org.
  19. [21] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  20. [22] . wikidata.org.
  21. [23] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] . Wikidata sitelinks. wikidata.org.
  2. [24] . Wikidata aliases. wikidata.org.

📑 Cite this page

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). Cornelia de Lange syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/cornelia-de-lange-syndrome
MLA “Cornelia de Lange syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/cornelia-de-lange-syndrome.
BibTeX @misc{4ortxyz_cornelia-de-lange-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Cornelia de Lange syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/cornelia-de-lange-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Cornelia de Lange syndrome — https://4ort.xyz/entity/cornelia-de-lange-syndrome (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. 24d ago · Comfyquiettree · 2026-07-04 view diff on Wikidata ↗
    Wikiskripta article id 23171
    "/* wbsetclaim-create:1||1 */ [[Property:P3471]]: 23171, Matched to [[:toollabs:mix-n-match/#/entry/78311573|DeLangeové syndrom (#78311573)]] in [[:toollabs:mix-n-match/#/catalog/2686|WikiSkripta]] #mi"
  2. 25d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of syndrome, genetic disease, monogenic disease +2
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39732|batch #39732]]: rm redundant subclass"
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