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"

2 matching diseasesClear search ×

Progressive bifocal chorioretinal atrophy

CRAPB · PBCRA

ORPHA:75373

Primary biliary cholangitis

Hanot syndrome · Primary biliary cirrhosis

ORPHA:186