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 ×

Monostotic fibrous dysplasia

Jaffe-Lichtenstein disease

ORPHA:93277

Lichtenstein syndrome

ORPHA:2390

Osteogenesis imperfecta

Brittle bone disease · Glass bone disease

ORPHA:666