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transcobalamin II deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.
Uniprot Description Results in various forms of anemia.
Disease Ontology 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.
Mondo Term and Equivalent IDs
MONDO:0010149:  transcobalamin II deficiency
GARD:0012338: 
ICD10:D51.2: 
NCIT:C142806: 
Orphanet:859: 
SCTID:237934001: 
UMLS:C0342701: