caspase-8 deficiency

autoimmune lymphoproliferative syndrome that has material basis in homozygous mutation in the CASP8 gene on chromosome 2q33
MedicalCondition rare_disease Q24975366
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caspase-8 deficiency

Summary

caspase-8 deficiency is a rare disease[1]. It draws 2 Wikipedia views per month (rare_disease category, ranking #237 of 627).[2]

Key Facts

  • caspase-8 deficiency's instance of is recorded as rare disease[3].
  • caspase-8 deficiency's instance of is recorded as class of disease[4].
  • caspase-8 deficiency's subclass of is recorded as autoimmune lymphoproliferative syndrome[5].
  • caspase-8 deficiency's subclass of is recorded as autosomal recessive disease[6].
  • caspase-8 deficiency's subclass of is recorded as Type 2 Autoimmune Lymphoproliferative Syndrome[7].
  • caspase-8 deficiency's OMIM ID is recorded as 607271[8].
  • caspase-8 deficiency's Disease Ontology ID is recorded as DOID:0110116[9].
  • caspase-8 deficiency's Orphanet ID is recorded as 275517[10].
  • caspase-8 deficiency's genetic association is recorded as CASP8[11].
  • caspase-8 deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110116[12].
  • caspase-8 deficiency's exact match is recorded as http://identifiers.org/doid/DOID:0110116[13].
  • caspase-8 deficiency's UMLS CUI is recorded as C1846545[14].
  • caspase-8 deficiency's ICD-10-CM is recorded as D47.9[15].
  • caspase-8 deficiency's GARD rare disease ID is recorded as 9796[16].
  • caspase-8 deficiency's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].
  • caspase-8 deficiency's Mondo ID is recorded as MONDO_0011804[18].
  • caspase-8 deficiency's ICD-11 ID is recorded as 867549613[19].
  • caspase-8 deficiency's UniProt disease ID is recorded as DI-01326[20].

Why It Matters

caspase-8 deficiency draws 2 Wikipedia views per month (rare_disease category, ranking #237 of 627).[2]

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] . Disease Ontology. Retrieved . wikidata.org.
  5. [7] . wikidata.org.
  6. [8] . Disease Ontology. Retrieved . wikidata.org.
  7. [9] . Disease Ontology. Retrieved . wikidata.org.
  8. [10] . Disease Ontology. Retrieved . wikidata.org.
  9. [11] . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  10. [12] . Disease Ontology. Retrieved . wikidata.org.
  11. [13] . Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
  12. [14] . Monarch Disease Ontology release 2018-06-29. 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.

Class ancestry

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

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.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). caspase-8 deficiency. Retrieved May 3, 2026, from https://4ort.xyz/entity/caspase-8-deficiency
MLA “caspase-8 deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/caspase-8-deficiency.
BibTeX @misc{4ortxyz_caspase-8-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{caspase-8 deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/caspase-8-deficiency}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): caspase-8 deficiency — https://4ort.xyz/entity/caspase-8-deficiency (retrieved 2026-05-03)

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