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"

3 matching diseasesClear search ×

Primary biliary cholangitis

Hanot syndrome · Primary biliary cirrhosis

ORPHA:186

Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome

PBC/PSC and AIH overlap syndrome · Overlap syndromes of autoimmune liver diseases

ORPHA:562639

Progressive bifocal chorioretinal atrophy

CRAPB · PBCRA

ORPHA:75373