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 ×

Hereditary progressive cardiac conduction defect

Hereditary Lenègre disease · Hereditary Lev disease

ORPHA:871

Genetic cystic renal disease

Hereditary cystic renal disease

ORPHA:93587

Glycogen storage disease due to liver glycogen phosphorylase deficiency

GSD due to liver glycogen phosphorylase deficiency · Glycogen storage disease type 6

ORPHA:369

Hereditary hyperferritinemia-cataract syndrome

Hereditary hyperferritinemia-cataract disease · HHCS

ORPHA:163

Hereditary late-onset Parkinson disease

Autosomal dominant late-onset Parkinson disease · LOPD

ORPHA:411602

OBSOLETE: Rare hereditary iron overload disease

ORPHA:363266

Rare hereditary autoinflammatory disease

ORPHA:619238

Rare hereditary connective tissue disease

ORPHA:619249

Rare hereditary disease with avascular necrosis

ORPHA:399185

Von Willebrand disease

Hereditary von Willebrand disease · Hereditary pseudohaemophilia

ORPHA:903