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"

19 matching diseasesClear search ×

Corneal dystrophy-perceptive deafness syndrome

CDPD · Corneal dystrophy with progressive deafness

ORPHA:1490

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 II

Avellino corneal dystrophy · GCD2

ORPHA:98963

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

North Carolina macular dystrophy

CAPE dystrophy · CAPED

ORPHA:75327

Posterior corneal dystrophy

ORPHA:98627

Pre-Descemet corneal dystrophy

PDCD

ORPHA:293462

Progressive cone dystrophy

Cone dystrophy

ORPHA:1871

Progressive deafness with stapes fixation

Stapedo-vestibular ankylosis · Thies-Reis syndrome

ORPHA:3235

Progressive muscular dystrophy

ORPHA:206644

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

Stromal corneal dystrophy

ORPHA:98626

Superficial corneal dystrophy

Anterior corneal dystrophy

ORPHA:98625

TOR1AIP1-related limb-girdle muscular dystrophy

TOR1AIP1-related LGMD · LGMD type 2Y

ORPHA:424261