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"

7 matching diseasesClear search ×

Epithelial basement membrane dystrophy

Anterior basement membrane dystrophy · Cogan microcystic epithelial dystrophy

ORPHA:98956

Epithelial recurrent erosion dystrophy

Dystrophia Smolandiensis · ERED

ORPHA:293381

Fuchs endothelial corneal dystrophy

Endoepithelial corneal dystrophy · FECD

ORPHA:98974

Lisch epithelial corneal dystrophy

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

ORPHA:98955

North Carolina macular dystrophy

CAPE dystrophy · CAPED

ORPHA:75327

Subepithelial mucinous corneal dystrophy

SMCD

ORPHA:98959

X-linked corneal dermoid

Corneal dystrophy epithelial-short stature syndrome · Guízar Vázquez-Luengas-Muñoz syndrome

ORPHA:1661