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"

3 matching diseasesClear search ×

Granular corneal dystrophy type II

Avellino corneal dystrophy · GCD2

ORPHA:98963

Glutaryl-CoA dehydrogenase deficiency

GA1 · GCDHD

ORPHA:25

Granular corneal dystrophy type I

Classic GCD · Classic granular corneal dystrophy

ORPHA:98962