transcobalamin II deficiency
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.
MONDO:0005046
immune system disorder
is_a
MONDO:0016624
hereditary anemia
is_a
MONDO:0019220
inborn disorder of cobalamin metabolism and transport
is_a
TCN2 deficiency
exact
inherited deficiency of transcobalamin
exact
transcobalamin II deficiency
exact