Niemann-Pick disease, type C1

Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein
MedicalCondition class_of_disease Q50349678
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Niemann-Pick disease, type C1

Summary

Niemann-Pick disease, type C1 is a class of disease[1].

Key Facts

  • Niemann-Pick disease, type C1's instance of is recorded as class of disease[2].
  • Niemann-Pick disease, type C1 is a type of Niemann-Pick disease[3].
  • Niemann-Pick disease, type C1 is a type of Niemann–Pick disease, type C[4].
  • Niemann-Pick disease, type C1 is a type of genetic disease[5].
  • Niemann-Pick disease, type C1's NCI Thesaurus ID is recorded as C126864[6].
  • Niemann-Pick disease, type C1's genetic association is recorded as NPC1[7].
  • Niemann-Pick disease, type C1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070113[8].
  • Niemann-Pick disease, type C1's exact match is recorded as http://identifiers.org/doid/DOID:0070113[9].
  • Niemann-Pick disease, type C1's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_646[10].
  • Niemann-Pick disease, type C1's on focus list of Wikimedia project is recorded as WikiProject Medicine[11].

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] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] . Q905695. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  7. [8] . Disease Ontology. Retrieved . wikidata.org.
  8. [9] . Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
  9. [10] . wikidata.org.
  10. [11] . 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). Niemann-Pick disease, type C1. Retrieved May 3, 2026, from https://4ort.xyz/entity/niemann-pick-disease-type-c1
MLA “Niemann-Pick disease, type C1.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/niemann-pick-disease-type-c1.
BibTeX @misc{4ortxyz_niemann-pick-disease-type-c1_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Niemann-Pick disease, type C1}}, year = {2026}, url = {https://4ort.xyz/entity/niemann-pick-disease-type-c1}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Niemann-Pick disease, type C1 — https://4ort.xyz/entity/niemann-pick-disease-type-c1 (retrieved 2026-05-03)

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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. 7w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Mondo id MONDO_0009757
    Imported from
    Nci thesaurus id C126864
    Umls cui C3179455, C0220756, C0268247 +1
    + 11 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39943|batch #39943]]: deprecate redundant disease superclasses"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.