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loading...| Preferred Name |
Transcobalamin II Deficiency |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142806 |
| code |
C142806 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C193006 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C193183 |
| Contributing_Source |
mCode Cellosaurus |
| DEFINITION |
An autosomal recessive condition caused by mutation(s) in the TCN2 gene, encoding transcobalamin-2. it is characterized by failure to thrive, megaloblastic anemia, and pancytopenia. |
| FULL_SYN |
Transcobalamin II Deficiency Transcobalamin II deficiency |
| label |
Transcobalamin II Deficiency |
| Preferred_Name |
Transcobalamin II Deficiency |
| prefixIRI |
Thesaurus:C142806 |
| prefLabel |
Transcobalamin II Deficiency |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0342701 |
| subClassOf |
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