Home › Entities › rare_disease › DeSanctis–Cacchione syndrome

DeSanctis–Cacchione syndrome

rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities
MedicalCondition rare_disease Q3843801
Press Enter · cited answer in seconds

DeSanctis–Cacchione syndrome

Summary

DeSanctis–Cacchione syndrome is a rare disease[1]. It draws 17 Wikipedia views per month (rare_disease category, ranking #221 of 627).[2]

Key Facts

  • DeSanctis–Cacchione syndrome's instance of is recorded as rare disease[3].
  • DeSanctis–Cacchione syndrome's instance of is recorded as class of disease[4].
  • DeSanctis–Cacchione syndrome's subclass of is recorded as xeroderma pigmentosum[5].
  • DeSanctis–Cacchione syndrome's subclass of is recorded as genetic disease[6].
  • DeSanctis–Cacchione syndrome's MeSH descriptor ID is recorded as C535992[7].
  • DeSanctis–Cacchione syndrome's OMIM ID is recorded as 278800[8].
  • DeSanctis–Cacchione syndrome's DiseasesDB is recorded as 29880[9].
  • DeSanctis–Cacchione syndrome's Orphanet ID is recorded as 1569[10].
  • DeSanctis–Cacchione syndrome's ICD-9-CM is recorded as 759.89[11].
  • DeSanctis–Cacchione syndrome's NCI Thesaurus ID is recorded as C84666[12].
  • DeSanctis–Cacchione syndrome's health specialty is recorded as medical genetics[13].
  • DeSanctis–Cacchione syndrome's genetic association is recorded as ERCC6[14].
  • DeSanctis–Cacchione syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1569[15].
  • DeSanctis–Cacchione syndrome's UMLS CUI is recorded as C0265201[16].
  • DeSanctis–Cacchione syndrome's GARD rare disease ID is recorded as 8276[17].
  • DeSanctis–Cacchione syndrome's Mondo ID is recorded as MONDO_0010217[18].
  • DeSanctis–Cacchione syndrome's Microsoft Academic ID is recorded as 2777366594[19].
  • DeSanctis–Cacchione syndrome's ICD-11 ID is recorded as 594988031[20].
  • DeSanctis–Cacchione syndrome's WikiProjectMed ID is recorded as DeSanctis–Cacchione syndrome[21].
  • DeSanctis–Cacchione syndrome's UniProt disease ID is recorded as DI-00389[22].

Why It Matters

DeSanctis–Cacchione syndrome draws 17 Wikipedia views per month (rare_disease category, ranking #221 of 627).[2] It has Wikipedia articles in 6 language editions, a strong signal of global cultural recognition.[23] It is known by 7 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] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [9] ↑ . wikidata.org.
  8. [10] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [11] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [12] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [13] ↑ . wikidata.org.
  12. [14] ↑ . Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum. wikidata.org.
  13. [15] ↑ . wikidata.org.
  14. [16] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  15. [17] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  16. [18] ↑ . wikidata.org.
  17. [19] ↑ . wikidata.org.
  18. [20] ↑ . wikidata.org.
  19. [21] ↑ . wikidata.org.
  20. [22] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikimedia Foundation. dumps.wikimedia.org.
  2. [23] ↑ . Wikidata sitelinks. wikidata.org.
  3. [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). DeSanctis–Cacchione syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/desanctis-cacchione-syndrome
MLA “DeSanctis–Cacchione syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/desanctis-cacchione-syndrome.
BibTeX @misc{4ortxyz_desanctis-cacchione-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{DeSanctis–Cacchione syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/desanctis-cacchione-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): DeSanctis–Cacchione syndrome — https://4ort.xyz/entity/desanctis-cacchione-syndrome (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/desanctis-cacchione-syndrome · Last refreshed: