/isolated methylmalonic aciduria cblD type

isolated methylmalonic aciduria cblD type

Rare Disease

MONDO:0700298

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Gene data from MyGene.info • Click to view on NCBI Gene

methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

MONDO:0009612

methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

MONDO:0009615

methylmalonic acidemia due to transcobalamin receptor defect

MONDO:0013341

combined malonic and methylmalonic acidemia

MONDO:0013661

methylmalonic aciduria and homocystinuria

MONDO:0016826

vitamin B12-responsive methylmalonic acidemia

MONDO:0017214