autosomal recessive congenital ichthyosis

congenital skin disease
MedicalCondition rare_disease Q266421
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Summary

autosomal recessive congenital ichthyosis is a rare disease[1]. It ranks in the top 4% of rare disease entities by monthly Wikipedia readership (15,606 views/month).[2]

Key Facts

  • Instance of: class of disease[3]
  • Named after: Harlequin[4]
  • Subclass of: autosomal recessive congenital ichthyosis[5]
  • Commons category: Harlequin-type ichthyosis[6]
  • NCI Thesaurus ID: C98934[7]
  • Health specialty: medical genetics[8]
  • Genetic association: ABCA12[9]
  • Age of onset: neonatal onset[10]
  • Exact match: http://purl.obolibrary.org/obo/DOID_0060713[11], http://identifiers.org/doid/DOID:0060713[12]
  • On focus list of Wikimedia project: WikiProject Medicine[13]
  • Has phenotype: hyperkeratosis[14], Q141815151[15], ichthyosis[16], erythroderma[17], Eclabium[18], cataract[19], Q141815048[20], sudden cardiac death[21], Polymetatarsia[22], dehydration[23], malignant hyperthermia[24], respiratory failure[25]
  • P14914: D00457[26]

Why It Matters

autosomal recessive congenital ichthyosis has Wikipedia articles in 21 language editions, a strong signal of global cultural recognition.[27] It is known by 40 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] ↑ . wikidata.org.
  2. [4] ↑ . wikidata.org.
  3. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [6] ↑ . wikidata.org.
  5. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] ↑ . wikidata.org.
  7. [9] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  8. [10] ↑ . Retrieved . wikidata.org.
  9. [11] ↑ . Disease Ontology. Retrieved . wikidata.org.
  10. [12] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  11. [13] ↑ . wikidata.org.
  12. [14] ↑ . Retrieved . wikidata.org.
  13. [15] ↑ . Retrieved . wikidata.org.
  14. [16] ↑ . Retrieved . wikidata.org.
  15. [17] ↑ . Retrieved . wikidata.org.
  16. [18] ↑ . Retrieved . wikidata.org.
  17. [19] ↑ . Retrieved . wikidata.org.
  18. [20] ↑ . Retrieved . wikidata.org.
  19. [21] ↑ . Retrieved . wikidata.org.
  20. [22] ↑ . Retrieved . wikidata.org.
  21. [23] ↑ . Retrieved . wikidata.org.
  22. [24] ↑ . Retrieved . wikidata.org.
  23. [25] ↑ . Retrieved . wikidata.org.
  24. [26] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikimedia Foundation. dumps.wikimedia.org.
  2. [27] ↑ . Wikidata sitelinks. wikidata.org.
  3. [28] ↑ . 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). autosomal recessive congenital ichthyosis. Retrieved October 24, 2026, from https://4ort.xyz/entity/autosomal-recessive-congenital-ichthyosis
MLA “autosomal recessive congenital ichthyosis.” 4ort.xyz Knowledge Graph, 4ort.xyz, 24 Oct. 2026, https://4ort.xyz/entity/autosomal-recessive-congenital-ichthyosis.
BibTeX @misc{4ortxyz_autosomal-recessive-congenital-ichthyosis_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive congenital ichthyosis}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-congenital-ichthyosis}, note = {Accessed: 2026-10-24}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): autosomal recessive congenital ichthyosis — https://4ort.xyz/entity/autosomal-recessive-congenital-ichthyosis (retrieved 2026-10-24)

Canonical URL: https://4ort.xyz/entity/autosomal-recessive-congenital-ichthyosis · 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. 3h ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Sitelink count → 31
    Wikipedia languages → ['ar', 'az', 'azb', 'bs', 'commons', 'cs', 'de', 'el', 'en', 'es', 'fi', 'fr', '
    Age of onset → neonatal onset
    Has phenotype → hyperkeratosis, Q141815151, ichthyosis +9
    + 2 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"
  2. 16w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Named after → —
    Health specialty → medical genetics
    Genetic association → ABCA12
    Subclass of → —
    + 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.