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"

4 matching diseasesClear search ×

Helicoid peripapillary chorioretinal degeneration

Sveinsson chorioretinal atrophy · Atrophia areata

ORPHA:86813

OBSOLETE: Isolated chorioretinal dystrophy

ORPHA:519300

OBSOLETE: Syndromic chorioretinal dystrophy

ORPHA:519321

Progressive bifocal chorioretinal atrophy

CRAPB · PBCRA

ORPHA:75373