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"

53 matching diseasesClear search ×

Succinic semialdehyde dehydrogenase deficiency

4-hydroxybutyric aciduria · Gamma-hydroxybutyric aciduria

ORPHA:22

Thiamine-responsive maple syrup urine disease

Thiamine-responsive BCKD deficiency · Thiamine-responsive MSUD

ORPHA:268184

Very long chain acyl-CoA dehydrogenase deficiency

VLCAD deficiency · VLCADD

ORPHA:26793

Xanthinuria type I

XDH deficiency · XO deficiency

ORPHA:93601

Xanthinuria type II

XDH and AOX dual deficiency · Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency

ORPHA:93602