cerebrotendinous xanthomatosis

autosomal recessive form of xanthomatosis.
MedicalCondition developmental_defect_during_embryogenesis Q2602467
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Summary

cerebrotendinous xanthomatosis is a developmental defect during embryogenesis[1]. It draws 88 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #83 of 308).[2]

Key Facts

  • cerebrotendinous xanthomatosis's instance of is recorded as developmental defect during embryogenesis[3].
  • cerebrotendinous xanthomatosis's instance of is recorded as designated intractable/rare disease[4].
  • cerebrotendinous xanthomatosis's instance of is recorded as rare disease[5].
  • cerebrotendinous xanthomatosis's instance of is recorded as class of disease[6].
  • cerebrotendinous xanthomatosis is a type of xanthomatosis[7].
  • cerebrotendinous xanthomatosis is a type of autosomal recessive metabolic cerebellar ataxia[8].
  • cerebrotendinous xanthomatosis is a type of neurometabolic disease[9].
  • cerebrotendinous xanthomatosis is a type of subcutaneous tissue disease[10].
  • cerebrotendinous xanthomatosis is a type of rare hereditary metabolic disease with peripheral neuropathy[11].
  • cerebrotendinous xanthomatosis is a type of cerebral lipidosis[12].
  • cerebrotendinous xanthomatosis is a type of metabolic disease with cataract[13].
  • cerebrotendinous xanthomatosis is a type of sterol metabolism disorder with epilepsy[14].
  • cerebrotendinous xanthomatosis is a type of developmental anomaly of metabolic origin[15].
  • cerebrotendinous xanthomatosis is a type of bile acid synthesis defect with cholestasis and malabsorption[16].
  • cerebrotendinous xanthomatosis is a type of syndromic dyslipidemia[17].
  • cerebrotendinous xanthomatosis is a type of rare genetic subcutaneous tissue disorder[18].
  • cerebrotendinous xanthomatosis is a type of disease[19].
  • cerebrotendinous xanthomatosis's external data available at URL is recorded as http://www.nanbyou.or.jp/entry/4618[20].
  • cerebrotendinous xanthomatosis's NCI Thesaurus ID is recorded as C84628[21].
  • cerebrotendinous xanthomatosis's health specialty is recorded as medical genetics[22].
  • cerebrotendinous xanthomatosis's health specialty is recorded as endocrinology[23].
  • cerebrotendinous xanthomatosis's genetic association is recorded as CYP27A1[24].
  • cerebrotendinous xanthomatosis's exact match is recorded as http://purl.obolibrary.org/obo/DOID_4810[25].
  • cerebrotendinous xanthomatosis's exact match is recorded as http://identifiers.org/doid/DOID:4810[26].
  • cerebrotendinous xanthomatosis's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_909[27].

Why It Matters

cerebrotendinous xanthomatosis draws 88 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #83 of 308).[2] It has Wikipedia articles in 13 language editions, a strong signal of global cultural recognition.[28] It is known by 19 alternative names across languages and contexts.[29]

References

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

Direct Wikidata claims

  1. [3] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [4] ↑ . ddrare.nibiohn.go.jp. Retrieved . ddrare.nibiohn.go.jp. Provenance: wikidata.org.
  3. [5] ↑ . wikidata.org.
  4. [6] ↑ . wikidata.org.
  5. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . 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] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [11] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [12] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [13] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [14] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  13. [15] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [16] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  15. [17] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  16. [18] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  17. [19] ↑ . wikidata.org.
  18. [20] ↑ . ddrare.nibiohn.go.jp. Retrieved . ddrare.nibiohn.go.jp. Provenance: wikidata.org.
  19. [21] ↑ . Disease Ontology. Retrieved . wikidata.org.
  20. [22] ↑ . wikidata.org.
  21. [23] ↑ . wikidata.org.
  22. [24] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  23. [25] ↑ . Disease Ontology. Retrieved . wikidata.org.
  24. [26] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  25. [27] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikimedia Foundation. dumps.wikimedia.org.
  2. [28] ↑ . Wikidata sitelinks. wikidata.org.
  3. [29] ↑ . 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). cerebrotendinous xanthomatosis. Retrieved October 13, 2026, from https://4ort.xyz/entity/cerebrotendinous-xanthomatosis
MLA “cerebrotendinous xanthomatosis.” 4ort.xyz Knowledge Graph, 4ort.xyz, 13 Oct. 2026, https://4ort.xyz/entity/cerebrotendinous-xanthomatosis.
BibTeX @misc{4ortxyz_cerebrotendinous-xanthomatosis_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{cerebrotendinous xanthomatosis}}, year = {2026}, url = {https://4ort.xyz/entity/cerebrotendinous-xanthomatosis}, note = {Accessed: 2026-10-13}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): cerebrotendinous xanthomatosis — https://4ort.xyz/entity/cerebrotendinous-xanthomatosis (retrieved 2026-10-13)

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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. 14w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Subclass of → xanthomatosis, autosomal recessive metabolic cerebellar ataxia, neurometabolic disease +10
    Instance of → developmental defect during embryogenesis, designated intractable/rare disease, rare disease +1
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39953|batch #39953]]: deprecate redundant disease superclasses (2)"
  2. 14w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of → xanthomatosis, autosomal recessive metabolic cerebellar ataxia, neurometabolic disease +10
    Health specialty → medical genetics, endocrinology
    Genetic association → CYP27A1
    Subclass of → —
    + 4 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.