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"

9 matching diseasesClear search ×

Methylmalonic acidemia with homocystinuria, type cblD

CblD defect · Cobalamin D defect

ORPHA:79283

Methylcobalamin deficiency type cblDv1

Functional methionine synthase deficiency type cblDv1

ORPHA:308380

Methylcobalamin deficiency type cblE

Functional methionine synthase deficiency type cblE

ORPHA:2169

Methylcobalamin deficiency type cblG

Functional methionine synthase deficiency type cblG

ORPHA:2170

Methylmalonic acidemia with homocystinuria

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

ORPHA:26

Methylmalonic acidemia with homocystinuria type cblF

CblF defect · Cobalamin F defect

ORPHA:79284

Methylmalonic acidemia with homocystinuria, type cblC

CblC defect · Cobalamin C defect

ORPHA:79282

Methylmalonic acidemia with homocystinuria, type cblJ

CblJ defects · Cobalamin J defect

ORPHA:369955

Methylmalonic acidemia with homocystinuria, type cblX

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

ORPHA:369962