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"

5 matching diseasesClear search ×

Methylmalonic acidemia with homocystinuria, type cblD

CblD defect · Cobalamin D defect

ORPHA:79283

Defect in conserved oligomeric Golgi complex

Defect in COG complex

ORPHA:309568

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