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Potocki–Shaffer syndrome

human disease
MedicalCondition rare_disease Q7234989
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Potocki–Shaffer syndrome

Summary

Potocki–Shaffer syndrome is a rare disease[1]. It draws 2 Wikipedia views per month (rare_disease category, ranking #236 of 627).[2]

Key Facts

  • Potocki–Shaffer syndrome's instance of is recorded as rare disease[3].
  • Potocki–Shaffer syndrome's instance of is recorded as developmental defect during embryogenesis[4].
  • Potocki–Shaffer syndrome's instance of is recorded as class of disease[5].
  • Potocki–Shaffer syndrome's subclass of is recorded as multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome[6].
  • Potocki–Shaffer syndrome's subclass of is recorded as partial deletion of the short arm of chromosome 11[7].
  • Potocki–Shaffer syndrome's subclass of is recorded as chromosomal deletion syndrome[8].
  • Potocki–Shaffer syndrome's subclass of is recorded as syndrome[9].
  • Potocki–Shaffer syndrome's MeSH descriptor ID is recorded as C538356[10].
  • Potocki–Shaffer syndrome's OMIM ID is recorded as 601224[11].
  • Potocki–Shaffer syndrome's DiseasesDB is recorded as 33344[12].
  • Potocki–Shaffer syndrome's Disease Ontology ID is recorded as DOID:0111687[13].
  • Potocki–Shaffer syndrome's Orphanet ID is recorded as 52022[14].
  • Potocki–Shaffer syndrome's ICD-9-CM is recorded as 758.39[15].
  • Potocki–Shaffer syndrome's NCI Thesaurus ID is recorded as C75456[16].
  • Potocki–Shaffer syndrome's genetic association is recorded as ALX4[17].
  • Potocki–Shaffer syndrome's genetic association is recorded as EXT2[18].
  • Potocki–Shaffer syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_52022[19].
  • Potocki–Shaffer syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111687[20].
  • Potocki–Shaffer syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111687[21].
  • Potocki–Shaffer syndrome's UMLS CUI is recorded as C1832588[22].
  • Potocki–Shaffer syndrome's ICD-10-CM is recorded as Q93.5[23].
  • Potocki–Shaffer syndrome's GARD rare disease ID is recorded as 9762[24].
  • Potocki–Shaffer syndrome's Mondo ID is recorded as MONDO_0011022[25].
  • Potocki–Shaffer syndrome's SNOMED CT ID is recorded as 702346005[26].
  • Potocki–Shaffer syndrome's Microsoft Academic ID is recorded as 2779582714[27].

Why It Matters

Potocki–Shaffer syndrome draws 2 Wikipedia views per month (rare_disease category, ranking #236 of 627).[2]

References

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

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [4] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . 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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [9] ↑ . Disease Ontology. Retrieved . 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] ↑ . wikidata.org.
  11. [13] ↑ . Disease Ontology. Retrieved . wikidata.org.
  12. [14] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  13. [15] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [16] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  15. [17] ↑ . Q905695. Retrieved . wikidata.org.
  16. [18] ↑ . Q905695. Retrieved . wikidata.org.
  17. [19] ↑ . wikidata.org.
  18. [20] ↑ . Disease Ontology. Retrieved . wikidata.org.
  19. [21] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  20. [22] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  21. [23] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  22. [24] ↑ . wikidata.org.
  23. [25] ↑ . wikidata.org.
  24. [26] ↑ . wikidata.org.
  25. [27] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

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

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