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rhizomelic chondrodysplasia punctata type 5

rhizomelic chondrodysplasia punctata that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31
Class type of: rhizomelic chondrodysplasia punctata, developmental defect during embryogenesis Q32143854
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Summary

rhizomelic chondrodysplasia punctata type 5 is a rare disease[1]. It is a type of rhizomelic chondrodysplasia punctata[2] and developmental defect during embryogenesis[3].

Key Facts

  • Instance of: class of disease[4]
  • Prevalence: 0.000001[5]
  • Genetic association: PEX5[6]
  • Age of onset: infantile onset[7], neonatal onset[8]
  • On focus list of Wikimedia project: WikiProject Medicine[9]
  • P14914: D468717[10]

References

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

Direct Wikidata claims

  1. [4] ↑ . wikidata.org.
  2. [2] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [3] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [5] ↑ . Retrieved . wikidata.org.
  5. [6] ↑ . UniProt. Retrieved . wikidata.org.
  6. [7] ↑ . Retrieved . wikidata.org.
  7. [8] ↑ . Retrieved . wikidata.org.
  8. [9] ↑ . wikidata.org.
  9. [10] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. 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). rhizomelic chondrodysplasia punctata type 5. Retrieved October 24, 2026, from https://4ort.xyz/entity/rhizomelic-chondrodysplasia-punctata-type-5
MLA “rhizomelic chondrodysplasia punctata type 5.” 4ort.xyz Knowledge Graph, 4ort.xyz, 24 Oct. 2026, https://4ort.xyz/entity/rhizomelic-chondrodysplasia-punctata-type-5.
BibTeX @misc{4ortxyz_rhizomelic-chondrodysplasia-punctata-type-5_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{rhizomelic chondrodysplasia punctata type 5}}, year = {2026}, url = {https://4ort.xyz/entity/rhizomelic-chondrodysplasia-punctata-type-5}, note = {Accessed: 2026-10-24}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): rhizomelic chondrodysplasia punctata type 5 — https://4ort.xyz/entity/rhizomelic-chondrodysplasia-punctata-type-5 (retrieved 2026-10-24)

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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. 8d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    P14914 → D468717
    Prevalence → {'amount': '+0.000001'}
    Age of onset → infantile onset, neonatal onset
    Claims rich → —
    "/* wbeditentity-update-languages-and-other-short:0||pt, pt-br */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"
  2. 17w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id → MONDO_0014743
    Genetic association → PEX5
    Orphanet id → 468717
    Instance of → rare disease, class of disease
    + 9 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"
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