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"

7 matching diseasesClear search ×

Polycythemia vera

Acquired primary erythrocytosis · Osler-Vaquez disease

ORPHA:729

Acquired secondary polycythemia

Acquired secondary erythrocytosis

ORPHA:238547

Chuvash erythrocytosis

Chuvash polycythemia · Von Hippel-Lindau-dependent polycythemia

ORPHA:238557

Gaisböck syndrome

Stress erythrocytosis · Stress polycythemia

ORPHA:90041

Primary acquired pure red cell aplasia

Primary acquired PRCA

ORPHA:98872

Primary erythromelalgia

Primary erythermalgia

ORPHA:90026

Primary familial polycythemia

Congenital erythrocytosis due to erythropoietin receptor mutation · Congenital polycythemia due to erythropoietin receptor mutation

ORPHA:90042