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"

16 matching diseasesClear search ×

Reis-Bücklers corneal dystrophy

Corneal dystrophy of Bowman layer type 1 · Granular corneal dystrophy type 3

ORPHA:98961

Thiel-Behnke corneal dystrophy

Anterior limiting membrane dystrophy type 2 · Corneal dystrophy of Bowman layer type 2

ORPHA:98960

Congenital hereditary endothelial dystrophy type II

Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy

ORPHA:293603

Corneal dystrophy

ORPHA:34533

Fleck corneal dystrophy

FCD · François-Neetens speckled corneal dystrophy

ORPHA:98970

Genetic corneal dystrophy

ORPHA:522560

Granular corneal dystrophy type I

Classic GCD · Classic granular corneal dystrophy

ORPHA:98962

Granular corneal dystrophy type II

Avellino corneal dystrophy · GCD2

ORPHA:98963

Lattice corneal dystrophy type I

Biber-Haab-Dimmer dystrophy · Classic lattice corneal dystrophy

ORPHA:98964

Macular corneal dystrophy

Corneal dystrophy Groenouw type II · Fehr corneal dystrophy

ORPHA:98969

Meesmann corneal dystrophy

Juvenile hereditary epithelial dystrophy of Meesmann · MECD

ORPHA:98954

Posterior corneal dystrophy

ORPHA:98627

Schnyder corneal dystrophy

Crystalline stromal dystrophy · Hereditary crystalline stromal dystrophy of Schnyder

ORPHA:98967

Stromal corneal dystrophy

ORPHA:98626

Superficial corneal dystrophy

Anterior corneal dystrophy

ORPHA:98625

Syndromic corneal dystrophy

ORPHA:98628