adult Refsum disease

Human disease
MedicalCondition rare_disease Q177809
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adult Refsum disease

Summary

adult Refsum disease is a rare disease[1]. It has Wikipedia articles in 14 language editions, a strong signal of global cultural recognition.[2]

Key Facts

  • adult Refsum disease's instance of is recorded as rare disease[3].
  • adult Refsum disease's instance of is recorded as class of disease[4].
  • Sigvald Bernhard Refsum is named after adult Refsum disease[5].
  • adult Refsum disease is a type of lipid metabolism disorder[6].
  • adult Refsum disease is a type of autosomal recessive metabolic cerebellar ataxia[7].
  • adult Refsum disease is a type of disease[8].
  • adult Refsum disease's Commons category is recorded as Refsum disease[9].
  • adult Refsum disease's ICD-9-CM is recorded as 356.3[10].
  • adult Refsum disease's ICD-9-CM is recorded as 272.8[11].
  • adult Refsum disease's NCI Thesaurus ID is recorded as C85043[12].
  • adult Refsum disease's health specialty is recorded as neurology[13].
  • adult Refsum disease's genetic association is recorded as PHYH[14].
  • adult Refsum disease's genetic association is recorded as PEX7[15].
  • adult Refsum disease's genetic association is recorded as PEX12[16].
  • adult Refsum disease's exact match is recorded as http://purl.obolibrary.org/obo/DOID_10582[17].
  • adult Refsum disease's exact match is recorded as http://identifiers.org/doid/DOID:10582[18].
  • adult Refsum disease's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_773[19].
  • adult Refsum disease's on focus list of Wikimedia project is recorded as WikiProject Medicine[20].

Why It Matters

adult Refsum disease has Wikipedia articles in 14 language editions, a strong signal of global cultural recognition.[2] It is known by 20 alternative names across languages and contexts.[21]

References

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

Direct Wikidata claims

  1. [3] . 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] . wikidata.org.
  7. [9] . wikidata.org.
  8. [10] . Disease Ontology. Retrieved . wikidata.org.
  9. [11] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [12] . Disease Ontology. Retrieved . wikidata.org.
  11. [13] . wikidata.org.
  12. [14] . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  13. [15] . Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  14. [16] . Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder. wikidata.org.
  15. [17] . Disease Ontology. Retrieved . wikidata.org.
  16. [18] . Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
  17. [19] . wikidata.org.
  18. [20] . wikidata.org.

Class ancestry

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

Aggregate / graph-position facts

  1. [2] . Wikidata sitelinks. wikidata.org.
  2. [21] . 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). adult Refsum disease. Retrieved May 3, 2026, from https://4ort.xyz/entity/adult-refsum-disease
MLA “adult Refsum disease.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/adult-refsum-disease.
BibTeX @misc{4ortxyz_adult-refsum-disease_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{adult Refsum disease}}, year = {2026}, url = {https://4ort.xyz/entity/adult-refsum-disease}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): adult Refsum disease — https://4ort.xyz/entity/adult-refsum-disease (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/adult-refsum-disease · 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. 26d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of lipid metabolism disorder, autosomal recessive metabolic cerebellar ataxia, disease
    Named after
    Health specialty neurology
    Genetic association PHYH, PEX7, PEX12
    + 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"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.