Shwachman-Diamond syndrome

syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities
MedicalCondition developmental_defect_during_embryogenesis Q1970052
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Shwachman-Diamond syndrome

Summary

Shwachman-Diamond syndrome is a developmental defect during embryogenesis[1]. It ranks in the top 8% of developmental_defect_during_embryogenesis entities by monthly Wikipedia readership (624 views/month).[2]

Key Facts

  • Shwachman-Diamond syndrome's instance of is recorded as developmental defect during embryogenesis[3].
  • Shwachman-Diamond syndrome's instance of is recorded as rare disease[4].
  • Shwachman-Diamond syndrome's instance of is recorded as class of disease[5].
  • Shwachman-Diamond syndrome is a type of syndrome[6].
  • Shwachman-Diamond syndrome is a type of pancreas disease[7].
  • Shwachman-Diamond syndrome is a type of genetic pancreatic disease[8].
  • Shwachman-Diamond syndrome is a type of functional neutrophil defect[9].
  • Shwachman-Diamond syndrome is a type of polymalformative genetic syndrome with increased risk of developing cancer[10].
  • Shwachman-Diamond syndrome is a type of multiple metaphyseal dysplasia[11].
  • Shwachman-Diamond syndrome is a type of congenital bone marrow failure syndromes[12].
  • Shwachman-Diamond syndrome is a type of disease[13].
  • Shwachman-Diamond syndrome's NCI Thesaurus ID is recorded as C61235[14].
  • Shwachman-Diamond syndrome's health specialty is recorded as medical genetics[15].
  • Shwachman-Diamond syndrome's genetic association is recorded as SBDS[16].
  • Shwachman-Diamond syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060479[17].
  • Shwachman-Diamond syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0060479[18].
  • Shwachman-Diamond syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_811[19].
  • Shwachman-Diamond syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[20].

Why It Matters

Shwachman-Diamond syndrome ranks in the top 8% of developmental_defect_during_embryogenesis entities by monthly Wikipedia readership (624 views/month).[2] It has Wikipedia articles in 13 language editions, a strong signal of global cultural recognition.[21] It is known by 22 alternative names across languages and contexts.[22]

References

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

Direct Wikidata claims

  1. [3] . Monarch Disease Ontology release 2018-06-29. Retrieved . 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] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [9] . Monarch Disease Ontology release 2018-06-29. 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] . wikidata.org.
  12. [14] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  13. [15] . wikidata.org.
  14. [16] . Q905695. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  15. [17] . Disease Ontology. Retrieved . wikidata.org.
  16. [18] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  17. [19] . wikidata.org.
  18. [20] . wikidata.org.

Class ancestry

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

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.org.
  2. [21] . Wikidata sitelinks. wikidata.org.
  3. [22] . 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). Shwachman-Diamond syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/shwachman-diamond-syndrome
MLA “Shwachman-Diamond syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/shwachman-diamond-syndrome.
BibTeX @misc{4ortxyz_shwachman-diamond-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Shwachman-Diamond syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/shwachman-diamond-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Shwachman-Diamond syndrome — https://4ort.xyz/entity/shwachman-diamond-syndrome (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/shwachman-diamond-syndrome · Last refreshed:

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. 4w ago · Twofivesixbot bot · 2026-05-18 view diff on Wikidata ↗
    Subclass of syndrome, pancreas disease, genetic pancreatic disease +5
    Instance of
    Instance of developmental defect during embryogenesis, rare disease, class of disease
    Health specialty medical genetics
    + 4 other properties edited (see Wikidata diff for full list)
    "/* wbsetclaim-update-qualifiers:1||1|9 */ [[Property:P2347]]: 22395, mv to monolingual text names on YSO statements"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.