Cernunnos deficiency

Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia
MedicalCondition rare_disease Q5064568
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Cernunnos deficiency

Summary

Cernunnos deficiency is a rare disease[1]. It is known by 12 alternative names across languages and contexts.[2]

Key Facts

  • Cernunnos deficiency's instance of is recorded as rare disease[3].
  • Cernunnos deficiency's instance of is recorded as class of disease[4].
  • Cernunnos deficiency is a type of inherited tumor[5].
  • Cernunnos deficiency is a type of non-severe combined immunodeficiency[6].
  • Cernunnos deficiency is a type of polymalformative genetic syndrome with increased risk of developing cancer[7].
  • Cernunnos deficiency's NCI Thesaurus ID is recorded as C162695[8].
  • Cernunnos deficiency's genetic association is recorded as NHEJ1[9].
  • Cernunnos deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_169079[10].

Why It Matters

Cernunnos deficiency is known by 12 alternative names across languages and contexts.[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] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] ↑ . wikidata.org.
  7. [9] ↑ . Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  8. [10] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikidata aliases. wikidata.org.

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APA 4ort.xyz Knowledge Graph. (2026). Cernunnos deficiency. Retrieved October 8, 2026, from https://4ort.xyz/entity/cernunnos-de-ciency
MLA “Cernunnos deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 8 Oct. 2026, https://4ort.xyz/entity/cernunnos-de-ciency.
BibTeX @misc{4ortxyz_cernunnos-de-ciency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Cernunnos deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/cernunnos-de-ciency}, note = {Accessed: 2026-10-08}}
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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. 13w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Mondo id → MONDO_0012650
    Imported from → —
    Nci thesaurus id → C162695
    Umls cui → C1969799, C4303792
    + 12 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39953|batch #39953]]: deprecate redundant disease superclasses (2)"
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