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"

38 matching diseasesClear search ×

Cone dystrophy with supernormal rod response

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

ORPHA:209932

Progressive cone dystrophy

Cone dystrophy

ORPHA:1871

OBSOLETE: Syndromic rod-cone dystrophy

OBSOLETE: Syndromic retinitis pigmentosa

ORPHA:98661

Best vitelliform macular dystrophy

BMD · BVMD

ORPHA:1243

Bietti crystalline dystrophy

BCD · Bietti crystalline corneoretinal dystrophy

ORPHA:41751

Bothnia retinal dystrophy

Västerbotten dystrophy

ORPHA:85128

Central discoid corneal dystrophy

ORPHA:98968

Climatic droplet keratopathy

Honey-droplet corneal dystrophy

ORPHA:98958

Complex regional pain syndrome type 1

Algodystrophy · Reflex sympathetic dystrophy

ORPHA:99995

Cone rod dystrophy

ORPHA:1872

Cone rod dystrophy-short stature syndrome

ORPHA:653709

Congenital hereditary endothelial dystrophy type II

Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy

ORPHA:293603

Congenital muscular dystrophy

CMD · MDC

ORPHA:97242

Congenital stromal corneal dystrophy

CSCD · Congenital hereditary stromal dystrophy

ORPHA:101068

Corneal dystrophy

ORPHA:34533

Cystoid macular dystrophy

Autosomal dominant cystoid macular edema · DCMD

ORPHA:75381

Duchenne muscular dystrophy

DMD · Duchenne

ORPHA:98896

Facioscapulohumeral dystrophy

Landouzy-Dejerine dystrophy · FSH dystrophy

ORPHA:269

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

Leukodystrophy

ORPHA:68356

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

Myotonic dystrophy

ORPHA:206647

North Carolina macular dystrophy

CAPE dystrophy · CAPED

ORPHA:75327

Pattern dystrophy

Patterned dystrophy of the retinal pigment epithelium

ORPHA:63454

Posterior corneal dystrophy

ORPHA:98627

Posterior polymorphous corneal dystrophy

PPCD · Posterior polymorphous dystrophy

ORPHA:98973

Pre-Descemet corneal dystrophy

PDCD

ORPHA:293462

Qualitative or quantitative defects of dystrophin

Dystrophinopathy

ORPHA:207085

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

Spondylometaphyseal dysplasia-corneal dystrophy syndrome

SMD-corneal dystrophy syndrome

ORPHA:589435

Stromal corneal dystrophy

ORPHA:98626

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