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 ×

Reynolds syndrome

Primary biliary cirrhosis and systemic scleroderma

ORPHA:779

Limited systemic sclerosis

Progressive systemic sclerosis · Scleroderma

ORPHA:220407

Primary biliary cholangitis

Hanot syndrome · Primary biliary cirrhosis

ORPHA:186

Primary systemic amyloidosis

Systemic AL amyloidosis

ORPHA:314701

Systemic sclerosis

Progressive systemic sclerosis · Scleroderma

ORPHA:90291