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"

2 matching diseasesClear search ×

Congenital cataract microcornea with corneal opacity

CCMCO

ORPHA:289499

Isolated congenital cholesteatoma of the middle ear

CCME · Congenital middle ear cholesteatoma

ORPHA:686556