diastrophic dysplasia

osteochondrodysplasia that has material basis in abnormal cartilage development due to mutations in the SLC26A2 gene which results in short limb dwarfism
MedicalCondition developmental_defect_during_embryogenesis Q3335666
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diastrophic dysplasia

Summary

diastrophic dysplasia is a developmental defect during embryogenesis[1]. It draws 107 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #108 of 308).[2]

Key Facts

  • diastrophic dysplasia's instance of is recorded as developmental defect during embryogenesis[3].
  • diastrophic dysplasia's instance of is recorded as rare disease[4].
  • diastrophic dysplasia's instance of is recorded as class of disease[5].
  • diastrophic dysplasia is a type of osteochondrodysplasia[6].
  • diastrophic dysplasia is a type of primary bone dysplasia with micromelia[7].
  • diastrophic dysplasia is a type of sulfation-related bone disorder[8].
  • diastrophic dysplasia is a type of genetic disease[9].
  • diastrophic dysplasia is a type of autosomal recessive disease[10].
  • diastrophic dysplasia's ICD-9-CM is recorded as 756.89[11].
  • diastrophic dysplasia's NCI Thesaurus ID is recorded as C156311[12].
  • diastrophic dysplasia's health specialty is recorded as medical genetics[13].
  • diastrophic dysplasia's genetic association is recorded as SLC26A2[14].
  • diastrophic dysplasia's exact match is recorded as http://purl.obolibrary.org/obo/DOID_14687[15].
  • diastrophic dysplasia's exact match is recorded as http://identifiers.org/doid/DOID:14687[16].
  • diastrophic dysplasia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_628[17].
  • diastrophic dysplasia's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].

Why It Matters

diastrophic dysplasia draws 107 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #108 of 308).[2] It has Wikipedia articles in 8 language editions, a strong signal of global cultural recognition.[19] It is known by 9 alternative names across languages and contexts.[20]

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] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [9] . Disease Ontology. Retrieved . wikidata.org.
  8. [10] . Disease Ontology. 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] . Q905695. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  13. [15] . Disease Ontology. Retrieved . wikidata.org.
  14. [16] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  15. [17] . wikidata.org.
  16. [18] . wikidata.org.

Class ancestry

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

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.org.
  2. [19] . Wikidata sitelinks. wikidata.org.
  3. [20] . 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). diastrophic dysplasia. Retrieved May 3, 2026, from https://4ort.xyz/entity/diastrophic-dysplasia
MLA “diastrophic dysplasia.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/diastrophic-dysplasia.
BibTeX @misc{4ortxyz_diastrophic-dysplasia_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{diastrophic dysplasia}}, year = {2026}, url = {https://4ort.xyz/entity/diastrophic-dysplasia}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): diastrophic dysplasia — https://4ort.xyz/entity/diastrophic-dysplasia (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/diastrophic-dysplasia · 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. 20d ago · Twofivesixbot bot · 2026-05-19 view diff on Wikidata ↗
    Subclass of osteochondrodysplasia, primary bone dysplasia with micromelia, sulfation-related bone disorder +2
    Instance of
    Aliases
    Subclass of
    + 4 other properties edited (see Wikidata diff for full list)
    "/* wbsetclaim-update-qualifiers:1||1|8 */ [[Property:P2347]]: 16892, mv to monolingual text names on YSO statements"
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