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"

39 matching diseasesClear search ×

Macular corneal dystrophy

Corneal dystrophy Groenouw type II · Fehr corneal dystrophy

ORPHA:98969

Central cloudy dystrophy of François

CCDF · Central cloudy corneal dystrophy of François

ORPHA:98972

Central discoid corneal dystrophy

ORPHA:98968

Climatic droplet keratopathy

Honey-droplet corneal dystrophy

ORPHA:98958

Cone rod dystrophy

ORPHA:1872

Congenital hereditary endothelial dystrophy type II

Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy

ORPHA:293603

Congenital stromal corneal dystrophy

CSCD · Congenital hereditary stromal dystrophy

ORPHA:101068

Corneal dystrophy

ORPHA:34533

Corneal dystrophy-perceptive deafness syndrome

CDPD · Corneal dystrophy with progressive deafness

ORPHA:1490

Dermochondrocorneal dystrophy

François syndrome

ORPHA:79149

Facioscapulohumeral dystrophy

Landouzy-Dejerine dystrophy · FSH dystrophy

ORPHA:269

Fleck corneal dystrophy

FCD · François-Neetens speckled corneal dystrophy

ORPHA:98970

Fuchs endothelial corneal dystrophy

Endoepithelial corneal dystrophy · FECD

ORPHA:98974

Gelatinous drop-like corneal dystrophy

GDCD · Primary familial amyloidosis of the cornea

ORPHA:98957

Genetic corneal dystrophy

ORPHA:522560

Genetic superficial corneal dystrophy

ORPHA:522562

Granular corneal dystrophy type I

Classic GCD · Classic granular corneal dystrophy

ORPHA:98962

Granular corneal dystrophy type II

Avellino corneal dystrophy · GCD2

ORPHA:98963

Grayson-Wilbrandt corneal dystrophy

GWCD

ORPHA:293375

Lattice corneal dystrophy type I

Biber-Haab-Dimmer dystrophy · Classic lattice corneal dystrophy

ORPHA:98964

Lisch epithelial corneal dystrophy

Band-shaped and whorled microcystic dystrophy of the corneal epithelium · LECD

ORPHA:98955

Meesmann corneal dystrophy

Juvenile hereditary epithelial dystrophy of Meesmann · MECD

ORPHA:98954

North Carolina macular dystrophy

CAPE dystrophy · CAPED

ORPHA:75327

Oculodental syndrome, Rutherfurd type

Gingival hypertrophy-corneal dystrophy · Rutherfurd syndrome

ORPHA:2709

Posterior amorphous corneal dystrophy

PACD · Posterior amorphous stromal dystrophy

ORPHA:98971

Posterior corneal dystrophy

ORPHA:98627

Posterior polymorphous corneal dystrophy

PPCD · Posterior polymorphous dystrophy

ORPHA:98973

Pre-Descemet corneal dystrophy

PDCD

ORPHA:293462

Progressive cone dystrophy

Cone dystrophy

ORPHA:1871

Reis-Bücklers corneal dystrophy

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

ORPHA:98961

Schnyder corneal dystrophy

Crystalline stromal dystrophy · Hereditary crystalline stromal dystrophy of Schnyder

ORPHA:98967

Spastic ataxia-corneal dystrophy syndrome

Bedouin spastic ataxia syndrome · Mousa-Al Din-Al Nassar syndrome

ORPHA:2572

Spondylometaphyseal dysplasia-corneal dystrophy syndrome

SMD-corneal dystrophy syndrome

ORPHA:589435

Stromal corneal dystrophy

ORPHA:98626

Subepithelial mucinous corneal dystrophy

SMCD

ORPHA:98959

Superficial corneal dystrophy

Anterior corneal dystrophy

ORPHA:98625

Syndromic corneal dystrophy

ORPHA:98628

Thiel-Behnke corneal dystrophy

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

ORPHA:98960

X-linked endothelial corneal dystrophy

XECD

ORPHA:293621