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"

9 matching diseasesClear search ×

Addison disease

Primary Addison disease · Autoimmune adrenalitis

ORPHA:85138

Chylomicron retention disease

Anderson disease · CMRD

ORPHA:71

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

ORPHA:324

Human prion disease

TSE · Transmissible spongiform encephalopathy

ORPHA:56970

Inherited human prion disease

Familial prion disease · Genetic human prion disease

ORPHA:280400

OBSOLETE: Primary glomerular disease

ORPHA:102373

Paget disease of the nipple

Paget's disease of the nipple · Paget disease of the breast

ORPHA:180275

Primary Sjögren disease

Primary Sjögren syndrome · Primary SjD

ORPHA:289390

Wilson disease

Hepatolenticular degeneration

ORPHA:905