transcobalamin II deficiency
Information
- Disease name
- transcobalamin II deficiency
- Disease ID
- DOID:0050818
- Description
- "A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII." [url:http\://omim.org/entry/275350, url:https\://www.orpha.net/data/patho/GB/uk-TCII.pdf]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03655223 | Enrolling by invitation | Early Check: Expanded Screening in Newborns | October 15, 2018 | December 31, 2025 |
- Disase is a (Disease Ontology)
- DOID:0050731
- Cross Reference ID (Disease Ontology)
- MIM:275350
- Exact Synonym (Disease Ontology)
- TCN2 deficiency
- MedGen concept unique identifier (MedGen Concept name)
- C0342701
- MedGen unique identifier (MedGen Concept name)
- 137976
- ICD10 preferred id (Insert disease from ICD10)
- D0003163
- ICD10 class code (Insert disease from ICD10)
- D51.2