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"

6 matching diseasesClear search ×

Pattern dystrophy

Patterned dystrophy of the retinal pigment epithelium

ORPHA:63454

Combined hamartoma of the retina and retinal pigment epithelium

CHR-RPE · Combined hamartoma of the retina and RPE

ORPHA:440727

Martinique crinkled retinal pigment epitheliopathy

MCRPE

ORPHA:466718

North Carolina macular dystrophy

CAPE dystrophy · CAPED

ORPHA:75327

Reticular dystrophy of the retinal pigment epithelium

ORPHA:99002

Torpedo Maculopathy

Solitary hypopigmented nevus of the retinal pigment epithelium · TM

ORPHA:674935