# 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

**Wikidata**: [Q18553496](https://www.wikidata.org/wiki/Q18553496)  
**Source**: https://4ort.xyz/entity/transcobalamin-ii-deficiency


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Identification of two mutant alleles of transcobalamin II in an affected family
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000185339/MONDO_0010149)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)