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"

9 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

Cystoid macular dystrophy

Autosomal dominant cystoid macular edema · DCMD

ORPHA:75381

Macular corneal dystrophy

Corneal dystrophy Groenouw type II · Fehr corneal dystrophy

ORPHA:98969

OBSOLETE: Inherited retinal disorder

OBSOLETE: Retinal dystrophy

ORPHA:71862

Occult macular dystrophy

OCMD · OMD

ORPHA:247834

Retinal macular dystrophy type 2

MCDR2

ORPHA:319640

Sorsby fundus dystrophy

SMD · Sorsby macular dystrophy

ORPHA:59181