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 ×

Von Willebrand disease

Hereditary von Willebrand disease · Hereditary pseudohaemophilia

ORPHA:903

Hereditary neutrophilia

ORPHA:279943

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

ORPHA:79357

Hereditary progressive cardiac conduction defect

Hereditary Lenègre disease · Hereditary Lev disease

ORPHA:871

Rare hereditary thrombophilia

ORPHA:217454