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"

2 matching diseasesClear search ×

Chuvash erythrocytosis

Chuvash polycythemia · Von Hippel-Lindau-dependent polycythemia

ORPHA:238557

Von Hippel-Lindau disease

Familial cerebelloretinal angiomatosis · Lindau disease

ORPHA:892