Zellweger syndrome

congenital disorder of nervous system
MedicalCondition designated_intractable_rare_disease Q189167
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Zellweger syndrome

Summary

Zellweger syndrome is a designated intractable/rare disease[1]. It has Wikipedia articles in 17 language editions, a strong signal of global cultural recognition.[2]

Key Facts

  • Zellweger syndrome's instance of is recorded as designated intractable/rare disease[3].
  • Zellweger syndrome's instance of is recorded as rare disease[4].
  • Zellweger syndrome's instance of is recorded as class of disease[5].
  • Zellweger syndrome's instance of is recorded as symptom or sign[6].
  • Hans Zellweger is named after Zellweger syndrome[7].
  • Zellweger syndrome is a type of Zellweger spectrum disorder[8].
  • Zellweger syndrome is a type of eye degenerative disease[9].
  • Zellweger syndrome is a type of peroxisomal biogenesis disorder[10].
  • Zellweger syndrome is a type of disease[11].
  • Zellweger syndrome's ICPC 2 ID is recorded as A90[12].
  • Zellweger syndrome's external data available at URL is recorded as http://www.nanbyou.or.jp/entry/4621[13].
  • Zellweger syndrome's NCI Thesaurus ID is recorded as C85239[14].
  • Zellweger syndrome's health specialty is recorded as medical genetics[15].
  • Zellweger syndrome's genetic association is recorded as PEX3[16].
  • Zellweger syndrome's genetic association is recorded as PEX13[17].
  • Zellweger syndrome's genetic association is recorded as PEX26[18].
  • Zellweger syndrome's genetic association is recorded as PEX6[19].
  • Zellweger syndrome's genetic association is recorded as PEX10[20].
  • Zellweger syndrome's genetic association is recorded as PEX5[21].
  • Zellweger syndrome's genetic association is recorded as PEX1[22].
  • Zellweger syndrome's genetic association is recorded as PEX12[23].
  • Zellweger syndrome's genetic association is recorded as PEX2[24].
  • Zellweger syndrome's genetic association is recorded as PEX14[25].
  • Zellweger syndrome's genetic association is recorded as PEX19[26].
  • Zellweger syndrome's genetic association is recorded as PEX16[27].

Why It Matters

Zellweger syndrome has Wikipedia articles in 17 language editions, a strong signal of global cultural recognition.[2] It is known by 5 alternative names across languages and contexts.[28]

References

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

Direct Wikidata claims

  1. [3] . ddrare.nibiohn.go.jp. Retrieved . ddrare.nibiohn.go.jp. Provenance: wikidata.org.
  2. [4] . wikidata.org.
  3. [5] . wikidata.org.
  4. [6] . wikidata.org.
  5. [7] . 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] . Disease Ontology. Retrieved . wikidata.org.
  9. [11] . wikidata.org.
  10. [12] . wikidata.org.
  11. [13] . ddrare.nibiohn.go.jp. Retrieved . ddrare.nibiohn.go.jp. Provenance: wikidata.org.
  12. [14] . Disease Ontology. Retrieved . wikidata.org.
  13. [15] . wikidata.org.
  14. [16] . Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  15. [17] . Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  16. [18] . Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  17. [19] . The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  18. [20] . Identification of PEX10, the Gene Defective in Complementation Group 7 of the Peroxisome-Biogenesis Disorders. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  19. [21] . Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. wikidata.org.
  20. [22] . Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  21. [23] . Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  22. [24] . A human gene responsible for Zellweger syndrome that affects peroxisome assembly. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  23. [25] . Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. wikidata.org.
  24. [26] . Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  25. [27] . Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.. Retrieved . platform.opentargets.org. Provenance: wikidata.org.

Class ancestry

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

Aggregate / graph-position facts

  1. [2] . Wikidata sitelinks. wikidata.org.
  2. [28] . Wikidata aliases. wikidata.org.

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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). Zellweger syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/zellweger-syndrome
MLA “Zellweger syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/zellweger-syndrome.
BibTeX @misc{4ortxyz_zellweger-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Zellweger syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/zellweger-syndrome}, note = {Accessed: 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. 23d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of Zellweger spectrum disorder, eye degenerative disease, peroxisomal biogenesis disorder +1
    Named after
    Health specialty medical genetics
    Genetic association PEX3, PEX13, PEX26 +9
    + 6 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39732|batch #39732]]: rm redundant subclass"
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