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"

147 matching diseasesClear search ×

Vitamin B12-unresponsive methylmalonic acidemia type mut-

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

ORPHA:79312

X-linked agammaglobulinemia

BTK-deficiency · Bruton type agammaglobulinemia

ORPHA:47

Xanthinuria type I

XDH deficiency · XO deficiency

ORPHA:93601