methylmalonic aciduria and homocystinuria type cblD
A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.
MONDO:0016826
methylmalonic aciduria and homocystinuria
is_a
MONDO:0100463
methylmalonic aciduria and/or homocystinuria, cblD type
is_a
MAHCD
related
cblD defect
exact
cobalamin D defect
exact
cobalamin d disease
exact
combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD
exact
homocystinuria, cblD type, variant 1, included
related
mehtylmalonic acidemia with homocystinuria cbI d
related
methylmalonic acidemia with homocystinuria type cblD
related
methylmalonic acidemia, Cblh type
related
methylmalonic aciduria and homocystinuria type cblD
exact
methylmalonic aciduria with homocystinuria, type cblD
exact
methylmalonic aciduria, Cblh type
related
methylmalonic aciduria, cblD type, variant 2, included
related