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"

4 matching diseasesClear search ×

Cone dystrophy with supernormal rod response

Cone dystrophy with supernormal rod ERG · Cone dystrophy with supernormal rod electroretinogram

ORPHA:209932

Cone rod dystrophy

ORPHA:1872

Progressive cone dystrophy

Cone dystrophy

ORPHA:1871

Superficial corneal dystrophy

Anterior corneal dystrophy

ORPHA:98625