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"

5 matching diseasesClear search ×

Central areolar choroidal dystrophy

Areolar atrophy of the macula · CACD

ORPHA:75377

Confetti-like macular atrophy

ORPHA:221142

Familial anetoderma

Hereditary anetoderma · Hereditary macular atrophy

ORPHA:228277

Occult macular dystrophy

OCMD · OMD

ORPHA:247834

Primary anetoderma

Primary macular atrophy

ORPHA:228272