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peroxisomal disease

inherited metabolic disorder that involves peroxisome malfunction
Class type of: inherited metabolic disorder Q3281322

Facts

10 properties
Instance of
designated intractable/rare disease, class of disease[2]
Subclass of
inherited metabolic disorder[3]
Afflicts
peroxisome[4]
Drug or therapy used for treatment
cholic acid, cholic acid[8]
Genetic association
ABCD1, ABCD3, ACOX1, AGPS, AGXT, AMACR, CAT, DNM1L, EHHADH, GNPAT, HSD17B4, TRIM37, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PHYH, PEX19, PEX2, PEX5, SCP2, BCAP31, PEX26, MFF, FAR1[9][10][11][12][13][14][15][16][17][18][19][20][21][22]
Health specialty
endocrinology[7]
ICD-9-CM
277.86[5]
NCI Thesaurus ID
C85005[6]
On focus list of Wikimedia project
WikiProject Medicine[23]
P14914
D68373[24]
🏷️ Also known as
en peroxisomal disease en peroxisomal disorder en Peroxisomal disorders en peroxisome biogenesis disorder ar مرض بيروكسيزومي de Peroxisomale Krankheit es enfermedad peroxisomal es trastorno peroxisomal fa ناهنجاری پراکسی‌زومی fr maladie de la fonction peroxysomale fr Maladie péroxysomale ru пероксисомная патология
🔖 Identifiers · 16
OpenAlex ID
C2781317408
Disease Ontology ID
DOID:906
EMedicine ID
1177387
Encyclopædia Britannica Online ID
topic/peroxisomal-disorder
Exact match
purl.obolibrary.org, identifiers.org
External data available at URL
www.nanbyou.or.jp
GARD rare disease ID
8398
ICD-10-CM
E71.5, E71.50
ICD-11 ID (Foundation)
782299726
ICD-11 ID (MMS)
5C57
MeSH descriptor ID
D018901
MeSH tree code
C16.320.565.663, C18.452.648.663
Show all 16 identifiers +4
Microsoft Academic ID (discontinued)
2781317408
Orphanet ID
68373
Topic's main category
Category:Peroxisomal disorders
UMLS CUI
C0282528, C5681330

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Summary

peroxisomal disease is a designated intractable/rare disease[1].

References

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

Direct Wikidata claims

  1. [2] ↑ . wikidata.org.
  2. [3] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [4] ↑ . wikidata.org.
  4. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [7] ↑ . wikidata.org.
  7. [8] ↑ . ChEMBL. Retrieved . wikidata.org.
  8. [9] ↑ . Retrieved . wikidata.org.
  9. [10] ↑ . Retrieved . wikidata.org.
  10. [11] ↑ . Retrieved . wikidata.org.
  11. [12] ↑ . Retrieved . wikidata.org.
  12. [13] ↑ . Retrieved . wikidata.org.
  13. [14] ↑ . Retrieved . wikidata.org.
  14. [15] ↑ . Retrieved . wikidata.org.
  15. [16] ↑ . Retrieved . wikidata.org.
  16. [17] ↑ . Retrieved . wikidata.org.
  17. [18] ↑ . Retrieved . wikidata.org.
  18. [19] ↑ . Retrieved . wikidata.org.
  19. [20] ↑ . Retrieved . wikidata.org.
  20. [21] ↑ . Retrieved . wikidata.org.
  21. [22] ↑ . Retrieved . wikidata.org.
  22. [23] ↑ . wikidata.org.
  23. [24] ↑ . 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). peroxisomal disease. Retrieved November 3, 2026, from https://4ort.xyz/entity/peroxisomal-disease
MLA “peroxisomal disease.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 Nov. 2026, https://4ort.xyz/entity/peroxisomal-disease.
BibTeX @misc{4ortxyz_peroxisomal-disease_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{peroxisomal disease}}, year = {2026}, url = {https://4ort.xyz/entity/peroxisomal-disease}, note = {Accessed: 2026-11-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): peroxisomal disease — https://4ort.xyz/entity/peroxisomal-disease (retrieved 2026-11-03)

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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. 13d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    MeSH descriptor ID → D018901
    EMedicine ID → 1177387
    Instance of → designated intractable/rare disease, class of disease
    GARD rare disease ID → 8398
    + 27 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update-languages-and-other-short:0||pt, pt-br */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"
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