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"

9 matching diseasesClear search ×

Schnyder corneal dystrophy

Crystalline stromal dystrophy · Hereditary crystalline stromal dystrophy of Schnyder

ORPHA:98967

Bietti crystalline dystrophy

BCD · Bietti crystalline corneoretinal dystrophy

ORPHA:41751

Cone rod dystrophy

ORPHA:1872

Congenital stromal corneal dystrophy

CSCD · Congenital hereditary stromal dystrophy

ORPHA:101068

Corneal dystrophy

ORPHA:34533

Granular corneal dystrophy type II

Avellino corneal dystrophy · GCD2

ORPHA:98963

North Carolina macular dystrophy

CAPE dystrophy · CAPED

ORPHA:75327

Progressive cone dystrophy

Cone dystrophy

ORPHA:1871

Stromal corneal dystrophy

ORPHA:98626