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"

51 matching diseasesClear search ×

Vitamin B12-unresponsive methylmalonic acidemia

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

ORPHA:27

Vitamin B12-unresponsive methylmalonic acidemia type mut0

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

ORPHA:289916

Xanthinuria type I

XDH deficiency · XO deficiency

ORPHA:93601