transcobalamin II deficiency

vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII
MedicalCondition rare_disease Q18553496
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transcobalamin II deficiency

Summary

transcobalamin II deficiency is a rare disease[1].

Key Facts

  • transcobalamin II deficiency's instance of is recorded as rare disease[2].
  • transcobalamin II deficiency's instance of is recorded as class of disease[3].
  • transcobalamin II deficiency's subclass of is recorded as vitamin B12 deficiency[4].
  • transcobalamin II deficiency's subclass of is recorded as inborn disorder of cobalamin metabolism and transport[5].
  • transcobalamin II deficiency's subclass of is recorded as syndrome with combined immunodeficiency[6].
  • transcobalamin II deficiency's subclass of is recorded as vitamin B12 deficiency anemia[7].
  • transcobalamin II deficiency's OMIM ID is recorded as 275350[8].
  • transcobalamin II deficiency's KEGG ID is recorded as H01190[9].
  • transcobalamin II deficiency's Disease Ontology ID is recorded as DOID:0050818[10].
  • transcobalamin II deficiency's Orphanet ID is recorded as 859[11].
  • transcobalamin II deficiency's NCI Thesaurus ID is recorded as C142806[12].
  • transcobalamin II deficiency's genetic association is recorded as TCN2[13].
  • transcobalamin II deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050818[14].
  • transcobalamin II deficiency's exact match is recorded as http://identifiers.org/doid/DOID:0050818[15].
  • transcobalamin II deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_859[16].
  • transcobalamin II deficiency's UMLS CUI is recorded as C1420653[17].
  • transcobalamin II deficiency's UMLS CUI is recorded as C0342701[18].
  • transcobalamin II deficiency's ICD-10-CM is recorded as D51.2[19].
  • transcobalamin II deficiency's GARD rare disease ID is recorded as 12338[20].
  • transcobalamin II deficiency's on focus list of Wikimedia project is recorded as WikiProject Medicine[21].
  • transcobalamin II deficiency's Mondo ID is recorded as MONDO_0010149[22].
  • transcobalamin II deficiency's UniProt disease ID is recorded as DI-02378[23].

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] ↑ . Disease Ontology. 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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [9] ↑ . wikidata.org.
  9. [10] ↑ . Disease Ontology. Retrieved . wikidata.org.
  10. [11] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [12] ↑ . wikidata.org.
  12. [13] ↑ . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  13. [14] ↑ . Disease Ontology. Retrieved . wikidata.org.
  14. [15] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  15. [16] ↑ . wikidata.org.
  16. [17] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  17. [18] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  18. [19] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  19. [20] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  20. [21] ↑ . wikidata.org.
  21. [22] ↑ . wikidata.org.
  22. [23] ↑ . 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). transcobalamin II deficiency. Retrieved May 3, 2026, from https://4ort.xyz/entity/transcobalamin-ii-deficiency
MLA “transcobalamin II deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/transcobalamin-ii-deficiency.
BibTeX @misc{4ortxyz_transcobalamin-ii-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{transcobalamin II deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/transcobalamin-ii-deficiency}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): transcobalamin II deficiency — https://4ort.xyz/entity/transcobalamin-ii-deficiency (retrieved 2026-05-03)

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