Hermansky-Pudlak syndrome 5

Hermansky-Pudlak syndrome that has material basis in homozygous mutation in the HPS5 gene on chromosome 11p14
MedicalCondition class_of_disease Q26695317
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Hermansky-Pudlak syndrome 5

Summary

Hermansky-Pudlak syndrome 5 is a class of disease[1].

Key Facts

  • Hermansky-Pudlak syndrome 5's instance of is recorded as class of disease[2].
  • Hermansky-Pudlak syndrome 5's subclass of is recorded as Hermansky-Pudlak syndrome[3].
  • Hermansky-Pudlak syndrome 5's OMIM ID is recorded as 614074[4].
  • Hermansky-Pudlak syndrome 5's Disease Ontology ID is recorded as DOID:0060543[5].
  • Hermansky-Pudlak syndrome 5's genetic association is recorded as HPS5[6].
  • Hermansky-Pudlak syndrome 5's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060543[7].
  • Hermansky-Pudlak syndrome 5's exact match is recorded as http://identifiers.org/doid/DOID:0060543[8].
  • Hermansky-Pudlak syndrome 5's UMLS CUI is recorded as C3888004[9].
  • Hermansky-Pudlak syndrome 5's UMLS CUI is recorded as C1424692[10].
  • Hermansky-Pudlak syndrome 5's on focus list of Wikimedia project is recorded as WikiProject Medicine[11].
  • Hermansky-Pudlak syndrome 5's Mondo ID is recorded as MONDO_0013557[12].
  • Hermansky-Pudlak syndrome 5's UniProt disease ID is recorded as DI-00561[13].

References

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

Direct Wikidata claims

  1. [2] . wikidata.org.
  2. [3] . Disease Ontology. Retrieved . wikidata.org.
  3. [4] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [5] . Disease Ontology. Retrieved . wikidata.org.
  5. [6] . Q905695. Retrieved . wikidata.org.
  6. [7] . Disease Ontology. Retrieved . wikidata.org.
  7. [8] . Identifiers.org. registry.identifiers.org. Provenance: 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] . wikidata.org.
  11. [12] . wikidata.org.
  12. [13] . wikidata.org.

Class ancestry

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

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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). Hermansky-Pudlak syndrome 5. Retrieved May 3, 2026, from https://4ort.xyz/entity/hermansky-pudlak-syndrome-5
MLA “Hermansky-Pudlak syndrome 5.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/hermansky-pudlak-syndrome-5.
BibTeX @misc{4ortxyz_hermansky-pudlak-syndrome-5_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Hermansky-Pudlak syndrome 5}}, year = {2026}, url = {https://4ort.xyz/entity/hermansky-pudlak-syndrome-5}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Hermansky-Pudlak syndrome 5 — https://4ort.xyz/entity/hermansky-pudlak-syndrome-5 (retrieved 2026-05-03)

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