Griscelli syndrome type 2

Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has material basis in mutation in the RAB27A gene on chromosome 15q21.3
MedicalCondition class_of_disease Q5609615
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Griscelli syndrome type 2

Summary

Griscelli syndrome type 2 is a class of disease[1]. It draws 4 Wikipedia views per month (class_of_disease category, ranking #628 of 1,968).[2]

Key Facts

  • Griscelli syndrome type 2's instance of is recorded as class of disease[3].
  • Griscelli syndrome type 2's subclass of is recorded as Griscelli syndrome[4].
  • Griscelli syndrome type 2's MeSH descriptor ID is recorded as C537302[5].
  • Griscelli syndrome type 2's OMIM ID is recorded as 607624[6].
  • Griscelli syndrome type 2's Disease Ontology ID is recorded as DOID:0060833[7].
  • Griscelli syndrome type 2's Orphanet ID is recorded as 79477[8].
  • Griscelli syndrome type 2's NCI Thesaurus ID is recorded as C111814[9].
  • Griscelli syndrome type 2's genetic association is recorded as RAB27A[10].
  • Griscelli syndrome type 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060833[11].
  • Griscelli syndrome type 2's exact match is recorded as http://identifiers.org/doid/DOID:0060833[12].
  • Griscelli syndrome type 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_79477[13].
  • Griscelli syndrome type 2's UMLS CUI is recorded as C1868679[14].
  • Griscelli syndrome type 2's GARD rare disease ID is recorded as 4483[15].
  • Griscelli syndrome type 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
  • Griscelli syndrome type 2's Mondo ID is recorded as MONDO_0011872[17].
  • Griscelli syndrome type 2's Microsoft Academic ID is recorded as 2778467887[18].
  • Griscelli syndrome type 2's ICD-11 ID is recorded as 1836541365[19].
  • Griscelli syndrome type 2's WikiProjectMed ID is recorded as Griscelli syndrome type 2[20].
  • Griscelli syndrome type 2's UniProt disease ID is recorded as DI-01687[21].

Why It Matters

Griscelli syndrome type 2 draws 4 Wikipedia views per month (class_of_disease category, ranking #628 of 1,968).[2]

References

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

Direct Wikidata claims

  1. [3] . wikidata.org.
  2. [4] . Disease Ontology. Retrieved . wikidata.org.
  3. [5] . Disease Ontology. Retrieved . wikidata.org.
  4. [6] . Disease Ontology. Retrieved . wikidata.org.
  5. [7] . Disease Ontology. Retrieved . wikidata.org.
  6. [8] . Disease Ontology. Retrieved . wikidata.org.
  7. [9] . Disease Ontology. Retrieved . wikidata.org.
  8. [10] . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  9. [11] . Disease Ontology. Retrieved . wikidata.org.
  10. [12] . Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
  11. [13] . wikidata.org.
  12. [14] . Disease Ontology. Retrieved . wikidata.org.
  13. [15] . Disease Ontology. Retrieved . wikidata.org.
  14. [16] . wikidata.org.
  15. [17] . wikidata.org.
  16. [18] . wikidata.org.
  17. [19] . wikidata.org.
  18. [20] . wikidata.org.
  19. [21] . wikidata.org.

Class ancestry

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

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.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). Griscelli syndrome type 2. Retrieved May 3, 2026, from https://4ort.xyz/entity/griscelli-syndrome-type-2
MLA “Griscelli syndrome type 2.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/griscelli-syndrome-type-2.
BibTeX @misc{4ortxyz_griscelli-syndrome-type-2_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Griscelli syndrome type 2}}, year = {2026}, url = {https://4ort.xyz/entity/griscelli-syndrome-type-2}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Griscelli syndrome type 2 — https://4ort.xyz/entity/griscelli-syndrome-type-2 (retrieved 2026-05-03)

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