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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"
Methylmalonic acidemia with homocystinuria type cblF
CblF defect · Cobalamin F defect
Methylmalonic acidemia with homocystinuria, type cblC
CblC defect · Cobalamin C defect
Methylmalonic acidemia with homocystinuria, type cblD
CblD defect · Cobalamin D defect
Methylmalonic acidemia with homocystinuria, type cblJ
CblJ defects · Cobalamin J defect