Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

10 matching diseasesClear search ×

Vitamin B12-responsive methylmalonic acidemia

Adenosylcobalamin deficiency · Vitamin B12-responsive methylmalonic aciduria

ORPHA:28

Vitamin B12-responsive methylmalonic acidemia type cblA

Vitamin B12-responsive methylmalonic aciduria type cblA

ORPHA:79310

Vitamin B12-responsive methylmalonic acidemia type cblB

Vitamin B12-responsive methylmalonic aciduria, type cblB

ORPHA:79311

Vitamin B12-responsive methylmalonic acidemia, type cblDv2

Vitamin B12-responsive methylmalonic aciduria, type cblDv2

ORPHA:308442

Combined malonic and methylmalonic acidemia

CMAMMA · Combined malonic and methylmalonic aciduria

ORPHA:289504

Methylmalonic acidemia with homocystinuria

Combined defect in adenosylcobalamin and methylcobalamin synthesis · Methylmalonic aciduria with homocystinuria

ORPHA:26

Methylmalonic aciduria due to transcobalamin receptor defect

Methylmalonic acidemia, TCb1R type · Methylmalonic acidemia, TCbIR type

ORPHA:280183

Vitamin B12-unresponsive methylmalonic acidemia

Methylmalonyl-Coenzyme A mutase deficiency · Vitamin B12-unresponsive methylmalonic aciduria

ORPHA:27

Vitamin B12-unresponsive methylmalonic acidemia type mut-

Partial deficiency of methylmalonyl-CoA mutase · Vitamin B12-unresponsive methylmalonic aciduria type mut-

ORPHA:79312

Vitamin B12-unresponsive methylmalonic acidemia type mut0

Complete deficiency of methylmalonyl-CoA mutase · Vitamin B12-unresponsive methylmalonic aciduria type mut0

ORPHA:289916