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"

10 matching diseasesClear search ×

Addison disease

Primary Addison disease · Autoimmune adrenalitis

ORPHA:85138

Autoimmune bullous skin disease

ORPHA:79669

Genetic neuro-ophthalmological disease

ORPHA:183616

Neuro-ophthalmological disease

ORPHA:140653

OBSOLETE: Other ganglionopathy related to autoimmune diseases

OBSOLETE: Other neuronopathy related to autoimmune diseases

ORPHA:208994

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

Rare neuroinflammatory or neuroimmunological disease

ORPHA:182064

Rare neurologic disease

Rare nervous system disease

ORPHA:98006

Secondary neonatal autoimmune disease

Transplacentally acquired neonatal autoimmune disease

ORPHA:398091

Systemic autoimmune disease

ORPHA:182228