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"

6 matching diseasesClear search ×

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

Addison disease

Primary Addison disease · Autoimmune adrenalitis

ORPHA:85138

Autoimmune interstitial lung disease-arthritis syndrome

COPA syndrome

ORPHA:444092

Autoimmune polyendocrinopathy type 2

APS type 2 · APS2

ORPHA:3143

Insulin autoimmune syndrome

Hirata disease

ORPHA:411593

Systemic autoimmune disease

ORPHA:182228