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 ×

X-linked cone dysfunction syndrome with myopia

Bornholm eye disease

ORPHA:90001

Åland Islands eye disease

AIED · Forsius-Eriksson syndrome

ORPHA:178333

Best vitelliform macular dystrophy

BMD · BVMD

ORPHA:1243

Fish-eye disease

FED · Partial LCAT deficiency

ORPHA:79292

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

ORPHA:588

Rare genetic eye disease

Rare genetic ophthalmologic disease

ORPHA:101435

Senior-Boichis syndrome

Boichis disease · Nephronophthisis-hepatic fibrosis syndrome

ORPHA:84081