combined immunodeficiency due to partial RAG1 deficiency

Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia
MedicalCondition rare_disease Q55783701
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combined immunodeficiency due to partial RAG1 deficiency

Summary

combined immunodeficiency due to partial RAG1 deficiency is a rare disease[1].

Key Facts

  • combined immunodeficiency due to partial RAG1 deficiency's instance of is recorded as rare disease[2].
  • combined immunodeficiency due to partial RAG1 deficiency's instance of is recorded as class of disease[3].
  • combined immunodeficiency due to partial RAG1 deficiency's subclass of is recorded as non-severe combined immunodeficiency[4].
  • combined immunodeficiency due to partial RAG1 deficiency's MeSH descriptor ID is recorded as C563691[5].
  • combined immunodeficiency due to partial RAG1 deficiency's OMIM ID is recorded as 609889[6].
  • combined immunodeficiency due to partial RAG1 deficiency's Orphanet ID is recorded as 231154[7].
  • combined immunodeficiency due to partial RAG1 deficiency's genetic association is recorded as RAG1[8].
  • combined immunodeficiency due to partial RAG1 deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_231154[9].
  • combined immunodeficiency due to partial RAG1 deficiency's UMLS CUI is recorded as C1835931[10].
  • combined immunodeficiency due to partial RAG1 deficiency's UMLS CUI is recorded as C4510944[11].
  • combined immunodeficiency due to partial RAG1 deficiency's ICD-10-CM is recorded as D81.8[12].
  • combined immunodeficiency due to partial RAG1 deficiency's GARD rare disease ID is recorded as 13712[13].
  • combined immunodeficiency due to partial RAG1 deficiency's Mondo ID is recorded as MONDO_0012359[14].
  • combined immunodeficiency due to partial RAG1 deficiency's UniProt disease ID is recorded as DI-01182[15].

References

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

Direct Wikidata claims

  1. [2] . wikidata.org.
  2. [3] . wikidata.org.
  3. [4] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [5] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] . A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  8. [9] . wikidata.org.
  9. [10] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] . UMLS 2023. Retrieved . wikidata.org.
  11. [12] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [13] . wikidata.org.
  13. [14] . wikidata.org.
  14. [15] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.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). combined immunodeficiency due to partial RAG1 deficiency. Retrieved May 3, 2026, from https://4ort.xyz/entity/combined-immunodeficiency-due-to-partial-rag1-deficiency
MLA “combined immunodeficiency due to partial RAG1 deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/combined-immunodeficiency-due-to-partial-rag1-deficiency.
BibTeX @misc{4ortxyz_combined-immunodeficiency-due-to-partial-rag1-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{combined immunodeficiency due to partial RAG1 deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/combined-immunodeficiency-due-to-partial-rag1-deficiency}, note = {Accessed: 2026-05-03}}
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