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 ×

North Carolina macular dystrophy

CAPE dystrophy · CAPED

ORPHA:75327

Bothnia retinal dystrophy

Västerbotten dystrophy

ORPHA:85128

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

Martinique crinkled retinal pigment epitheliopathy

MCRPE

ORPHA:466718

OBSOLETE: Inherited retinal disorder

OBSOLETE: Retinal dystrophy

ORPHA:71862

Pattern dystrophy

Patterned dystrophy of the retinal pigment epithelium

ORPHA:63454

Reticular dystrophy of the retinal pigment epithelium

ORPHA:99002