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PCNA-related progressive neurodegenerative photosensitivy syndrome

human disease
MedicalCondition head_and_neck_disease Q55345884
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PCNA-related progressive neurodegenerative photosensitivy syndrome

Summary

PCNA-related progressive neurodegenerative photosensitivy syndrome is a head and neck disease[1].

Key Facts

  • PCNA-related progressive neurodegenerative photosensitivy syndrome's instance of is recorded as head and neck disease[2].
  • PCNA-related progressive neurodegenerative photosensitivy syndrome's instance of is recorded as developmental defect during embryogenesis[3].
  • PCNA-related progressive neurodegenerative photosensitivy syndrome's instance of is recorded as rare disease[4].
  • PCNA-related progressive neurodegenerative photosensitivy syndrome's instance of is recorded as class of disease[5].
  • PCNA-related progressive neurodegenerative photosensitivy syndrome is a type of ataxia-telangiectasia-like disorder[6].
  • PCNA-related progressive neurodegenerative photosensitivy syndrome is a type of malformation syndrome with skin/mucosae involvement[7].
  • PCNA-related progressive neurodegenerative photosensitivy syndrome is a type of progeroid syndrome[8].
  • PCNA-related progressive neurodegenerative photosensitivy syndrome is a type of genetic syndromic intellectual disability[9].
  • PCNA-related progressive neurodegenerative photosensitivy syndrome is a type of syndromic genetic deafness[10].
  • PCNA-related progressive neurodegenerative photosensitivy syndrome's genetic association is recorded as PCNA[11].
  • PCNA-related progressive neurodegenerative photosensitivy syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_438134[12].

References

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

Direct Wikidata claims

  1. [2] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [3] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  3. [4] ↑ . wikidata.org.
  4. [5] ↑ . wikidata.org.
  5. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [9] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [10] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] ↑ . Q905695. Retrieved . wikidata.org.
  11. [12] ↑ . 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). PCNA-related progressive neurodegenerative photosensitivy syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/pcna-related-progressive-neurodegenerative-photosensitivy-syndrome
MLA “PCNA-related progressive neurodegenerative photosensitivy syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/pcna-related-progressive-neurodegenerative-photosensitivy-syndrome.
BibTeX @misc{4ortxyz_pcna-related-progressive-neurodegenerative-photosensitivy-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{PCNA-related progressive neurodegenerative photosensitivy syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/pcna-related-progressive-neurodegenerative-photosensitivy-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): PCNA-related progressive neurodegenerative photosensitivy syndrome — https://4ort.xyz/entity/pcna-related-progressive-neurodegenerative-photosensitivy-syndrome (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/pcna-related-progressive-neurodegenerative-photosensitivy-syndrome · 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. 4w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id → MONDO_0014399
    Genetic association → PCNA
    Orphanet id → 438134
    Instance of → head and neck disease, developmental defect during embryogenesis, rare disease +1
    + 8 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39742|batch #39742]]: subclass of disease, not instance"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.