pycnodysostosis

osteochondrodysplasia that has material basis in a mutation in the CTSK gene which results in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges
MedicalCondition developmental_defect_during_embryogenesis Q974928
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pycnodysostosis

Summary

pycnodysostosis is a developmental defect during embryogenesis[1]. pycnodysostosis draws 369 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #38 of 308).[2]

Key Facts

  • pycnodysostosis's instance of is recorded as developmental defect during embryogenesis[3].
  • pycnodysostosis's instance of is recorded as rare disease[4].
  • pycnodysostosis's instance of is recorded as class of disease[5].
  • pycnodysostosis is a type of osteochondrodysplasia[6].
  • pycnodysostosis is a type of developmental anomaly of metabolic origin[7].
  • pycnodysostosis is a type of genetic disease[8].
  • pycnodysostosis's NCI Thesaurus ID is recorded as C131187[9].
  • pycnodysostosis's health specialty is recorded as rheumatology[10].
  • pycnodysostosis's health specialty is recorded as medical genetics[11].
  • pycnodysostosis's health specialty is recorded as endocrinology[12].
  • pycnodysostosis's genetic association is recorded as CTSK[13].
  • pycnodysostosis's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080038[14].
  • pycnodysostosis's exact match is recorded as http://identifiers.org/doid/DOID:0080038[15].
  • pycnodysostosis's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_763[16].
  • pycnodysostosis's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].
  • pycnodysostosis's has phenotype is recorded as dwarfism[18].
  • pycnodysostosis's has phenotype is recorded as osteopetrosis[19].

Why It Matters

pycnodysostosis draws 369 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #38 of 308).[2] pycnodysostosis has Wikipedia articles in 12 language editions, a strong signal of global cultural recognition.[20] pycnodysostosis is known by 7 alternative names across languages and contexts.[21]

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] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] . Disease Ontology. Retrieved . wikidata.org.
  7. [9] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [10] . wikidata.org.
  9. [11] . wikidata.org.
  10. [12] . wikidata.org.
  11. [13] . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  12. [14] . Disease Ontology. Retrieved . wikidata.org.
  13. [15] . Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
  14. [16] . wikidata.org.
  15. [17] . wikidata.org.
  16. [18] . Disease Ontology. Retrieved . wikidata.org.
  17. [19] . Disease Ontology. Retrieved . wikidata.org.

Class ancestry

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

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.org.
  2. [20] . Wikidata sitelinks. wikidata.org.
  3. [21] . 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). pycnodysostosis. Retrieved May 3, 2026, from https://4ort.xyz/entity/pycnodysostosis
MLA “pycnodysostosis.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/pycnodysostosis.
BibTeX @misc{4ortxyz_pycnodysostosis_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{pycnodysostosis}}, year = {2026}, url = {https://4ort.xyz/entity/pycnodysostosis}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): pycnodysostosis — https://4ort.xyz/entity/pycnodysostosis (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. 16d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of osteochondrodysplasia, developmental anomaly of metabolic origin, genetic disease
    Health specialty rheumatology, medical genetics, endocrinology
    Genetic association CTSK
    Has phenotype dwarfism, osteopetrosis
    + 5 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.