inborn disorder of cobalamin metabolism and transport
An inherited metabolic disease affecting cobalamin (vitamin B12) intestinal absorption, transport in the blood, uptake by peripheral cells or cellular metabolism.
MONDO:0005528
inborn vitamin metabolic disorder
is_a
MONDO:0017758
disorder of vitamin and non-protein cofactor absorption and transport
is_a
MONDO:0020696
vitamin B12 deficiency
is_a
cobalamin deficiency
broad
hypocobalaminemia
broad
inborn disorder of cobalamin metabolism and transport
exact
inborn error of cobalamin metabolic process
exact
inborn vitamin B12 deficiency (disease)
exact
rare inborn error of cobalamin metabolic process
exact
SPCC576.03c SPAC57A7.07c SPAC1783.01 SPBC12C2.03c