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"

10 matching diseasesClear search ×

Congenital stromal corneal dystrophy

CSCD · Congenital hereditary stromal dystrophy

ORPHA:101068

Cone rod dystrophy

ORPHA:1872

Corneal dystrophy

ORPHA:34533

Epidermolysis bullosa simplex with muscular dystrophy

EBS-MD · Limb-girdle muscular dystrophy with epidermolysis bullosa simplex

ORPHA:257

Facioscapulohumeral dystrophy

Landouzy-Dejerine dystrophy · FSH dystrophy

ORPHA:269

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 polymorphous corneal dystrophy

PPCD · Posterior polymorphous dystrophy

ORPHA:98973

Progressive cone dystrophy

Cone dystrophy

ORPHA:1871