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 ×

Primary biliary cholangitis

Hanot syndrome · Primary biliary cirrhosis

ORPHA:186

Reynolds syndrome

Primary biliary cirrhosis and systemic scleroderma

ORPHA:779

Primary ciliary dyskinesia

PCD

ORPHA:244

Primary desmosis coli

Aplastic desmosis coli

ORPHA:565641