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acatalasia

Human disease
Class type of: peroxisomal disease Q3273331

Facts

9 properties
Instance of
rare disease, class of disease[3]
Subclass of
peroxisomal disease
Age of onset
any age[8]
Genetic association
CAT[7]
Has phenotype
mouth ulcer, bleeding gums, gingivitis, microcytic anemia, type 2 diabetes, presbycusis, gangrene, vitiligo, parkinsonian syndrome, arteriosclerosis, pain, laryngeal neoplasm, type-1 diabetes, schizophrenia[10][11][12][13][14][15][16][17][18][19][20][21][22][23]
Health specialty
endocrinology[6]
NCI Thesaurus ID
C84526[5]
On focus list of Wikimedia project
WikiProject Medicine[9]
Prevalence
+0.00005[4]
🏷️ Also known as
en Takahara disease en Acatalasemia en deficiency of catalase en deficiency of catalase (disorder) en acatalasia en ACATLAS ar انعدام الكاتالاز de Akatalasie es Enfermedad de Takahara es Acatalasia es Akatalasemia fi Akatalasia fr acatalasémie fr acatalasie ja 無カタラーゼ症 ja 高原病 pl Akatalazja pl Choroba Takahary pt Acatalasemia pt Acatalassemia
🔖 Identifiers · 20
Disease Ontology ID
DOID:2582
DiseasesDB
30598
Encyclopædia Britannica Online ID
science/acatalasia
Encyclopædia Universalis ID
acatalasie
Exact match
purl.obolibrary.org, identifiers.org
Experimental Factor Ontology ID
0004144
Freebase ID
/m/0fmw16
GARD rare disease ID
363
ICD-10 ID
E80.3
ICD-9 ID
277.89
KEGG ID
H00203
MeSH descriptor ID
D020642
Show all 20 identifiers +8
MeSH tree code
C16.320.565.663.050, C18.452.648.663.050
Microsoft Academic ID (discontinued)
2778466657, 2909516755
Mondo ID
MONDO_0013571
OMIM ID
614097
Orphanet ID
926
Raras disease ID
D00926
UMLS CUI
C0268419, C0752048
UniProt disease ID
DI-00016

Report an error or request removal Lineage (PROV-JSON)

🔗 Connections
Health specialty 1
endocrinology
Instance of 1
rare disease
On focus list of Wikimedia project 1
WikiProject Medicine
Subclass of 1
disease
Press Enter · cited answer in seconds

Summary

acatalasia is a rare disease[1]. acatalasia is a type of peroxisomal disease[2].

Related Entities

disease endocrinology

References

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

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [2] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [4] ↑ . Retrieved . wikidata.org.
  4. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . wikidata.org.
  6. [7] ↑ . Molecular analysis of human acatalasemia. Identification of a splicing mutation. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  7. [8] ↑ . Retrieved . wikidata.org.
  8. [9] ↑ . 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] ↑ . Retrieved . 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). acatalasia. Retrieved November 7, 2026, from https://4ort.xyz/entity/acatalasia
MLA “acatalasia.” 4ort.xyz Knowledge Graph, 4ort.xyz, 7 Nov. 2026, https://4ort.xyz/entity/acatalasia.
BibTeX @misc{4ortxyz_acatalasia_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{acatalasia}}, year = {2026}, url = {https://4ort.xyz/entity/acatalasia}, note = {Accessed: 2026-11-07}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): acatalasia — https://4ort.xyz/entity/acatalasia (retrieved 2026-11-07)

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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. 17d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Prevalence → 0.00005
    Age of onset → any age
    Has phenotype → mouth ulcer, bleeding gums, gingivitis +1
    Raras disease ID → D00926
    "Changed the item: QuickStatements 3.0 batch #61469: Raras.org data import"
  2. 18w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of → peroxisomal disease
    Health specialty → endocrinology
    Genetic association → CAT
    Instance of → rare disease, class of disease
    + 1 other property edited (see Wikidata diff for full list)
    "Changed the item: QuickStatements 3.0 batch #39732: rm redundant subclass"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.