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"

28 matching diseasesClear search ×

North Carolina macular dystrophy

CAPE dystrophy · CAPED

ORPHA:75327

Best vitelliform macular dystrophy

BMD · BVMD

ORPHA:1243

Bothnia retinal dystrophy

Västerbotten dystrophy

ORPHA:85128

Choroideremia

CHM · Tapetochoroidal dystrophy

ORPHA:180

Complex regional pain syndrome type 1

Algodystrophy · Reflex sympathetic dystrophy

ORPHA:99995

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

Cystoid macular dystrophy

Autosomal dominant cystoid macular edema · DCMD

ORPHA:75381

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

Myotonic dystrophy type 3

ORPHA:54238

Pattern dystrophy

Patterned dystrophy of the retinal pigment epithelium

ORPHA:63454

Posterior polymorphous corneal dystrophy

PPCD · Posterior polymorphous dystrophy

ORPHA:98973

Progressive cone dystrophy

Cone dystrophy

ORPHA:1871

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

ORPHA:606

Qualitative or quantitative defects of dystrophin

Dystrophinopathy

ORPHA:207085

Schnyder corneal dystrophy

Crystalline stromal dystrophy · Hereditary crystalline stromal dystrophy of Schnyder

ORPHA:98967

Steinert myotonic dystrophy

Myotonic dystrophy type 1 · Steinert disease

ORPHA:273

Stromal corneal dystrophy

ORPHA:98626

Superficial corneal dystrophy

Anterior corneal dystrophy

ORPHA:98625