Home › Entities › T-B- severe combined immunodeficiency › immunodeficiency 26

immunodeficiency 26

medical condition
Class type of: T-B- severe combined immunodeficiency, severe combined immunodeficiency, autosomal recessive disease Q48989430

Facts

7 properties
Instance of
rare disease, class of disease[5]
Subclass of
T-B- severe combined immunodeficiency, severe combined immunodeficiency, autosomal recessive disease
Age of onset
infantile onset, neonatal onset[9][10]
Genetic association
PRKDC[8]
Has phenotype
Infantile onset, severe combined immunodeficiency, micropenis, sensorineural hearing loss, enophthalmos, visual impairment, seizure, Pachygyria, Cerebellar vermis hypoplasia, intrauterine growth restriction, CNS hypomyelination, brain atrophy[11][12][13][14][15][16][17][18][19][20][21][22]
Health specialty
medical genetics[7]
Prevalence
+0.000001[6]
🏷️ Also known as
en IMD26 en immunodeficiency 26 en IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES en IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 en SCID due to DNA-PKcs deficiency en severe combined immunodeficiency due to DNA-PKcs deficiency
🔖 Identifiers · 10
Disease Ontology ID
DOID:0111961
Exact match
www.orpha.net, purl.obolibrary.org, identifiers.org
Google Knowledge Graph ID
/g/11hbbp_c44
ICD-10-CM
D81.1
Mondo ID
MONDO_0014423
OMIM ID
615966
Orphanet ID
317425
Raras disease ID
D317425
UMLS CUI
C4014833, C4274221
UniProt disease ID
DI-04200

Report an error or request removal Lineage (PROV-JSON)

Press Enter · cited answer in seconds

Summary

immunodeficiency 26 is a rare disease[1]. It is a type of T-B- severe combined immunodeficiency[2], severe combined immunodeficiency[3], and autosomal recessive disease[4].

References

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

Direct Wikidata claims

  1. [5] ↑ . wikidata.org.
  2. [2] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  3. [3] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . Retrieved . wikidata.org.
  6. [7] ↑ . wikidata.org.
  7. [8] ↑ . A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  8. [9] ↑ . Retrieved . wikidata.org.
  9. [10] ↑ . Retrieved . wikidata.org.
  10. [11] ↑ . Retrieved . wikidata.org.
  11. [12] ↑ . Retrieved . wikidata.org.
  12. [13] ↑ . Retrieved . wikidata.org.
  13. [14] ↑ . Retrieved . wikidata.org.
  14. [15] ↑ . Retrieved . wikidata.org.
  15. [16] ↑ . Retrieved . wikidata.org.
  16. [17] ↑ . Retrieved . wikidata.org.
  17. [18] ↑ . Retrieved . wikidata.org.
  18. [19] ↑ . Retrieved . wikidata.org.
  19. [20] ↑ . Retrieved . wikidata.org.
  20. [21] ↑ . Retrieved . wikidata.org.
  21. [22] ↑ . Retrieved . 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). immunodeficiency 26. Retrieved November 8, 2026, from https://4ort.xyz/entity/immunodeficiency-26
MLA “immunodeficiency 26.” 4ort.xyz Knowledge Graph, 4ort.xyz, 8 Nov. 2026, https://4ort.xyz/entity/immunodeficiency-26.
BibTeX @misc{4ortxyz_immunodeficiency-26_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{immunodeficiency 26}}, year = {2026}, url = {https://4ort.xyz/entity/immunodeficiency-26}, note = {Accessed: 2026-11-08}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): immunodeficiency 26 — https://4ort.xyz/entity/immunodeficiency-26 (retrieved 2026-11-08)

Canonical URL: https://4ort.xyz/entity/immunodeficiency-26 · Last refreshed:

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. 18d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Prevalence → 0.000001
    Age of onset → infantile onset, neonatal onset
    Has phenotype → Infantile onset, severe combined immunodeficiency, micropenis +1
    Raras disease ID → D317425
    "Changed labels, descriptions, aliases and claims: QuickStatements 3.0 batch #61469: Raras.org data import"
  2. 18w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Mondo ID → MONDO_0014423
    UMLS CUI → C4014833, C4274221
    Disease Ontology ID → DOID:0111961
    UniProt disease ID → DI-04200
    + 10 other properties edited (see Wikidata diff for full list)
    "Changed the item: QuickStatements 3.0 batch #39953: deprecate redundant disease superclasses (2)"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.