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 ×

Chuvash erythrocytosis

Chuvash polycythemia · Von Hippel-Lindau-dependent polycythemia

ORPHA:238557

Autosomal recessive secondary polycythemia not associated with VHL gene

Autosomal recessive secondary erythrocytosis not associated with VHL gene · Autosomal recessive secondary erythrocytosis, non-Chuvash type

ORPHA:247378

Congenital secondary polycythemia

Congenital secondary erythrocytosis

ORPHA:238536

Gaisböck syndrome

Stress erythrocytosis · Stress polycythemia

ORPHA:90041

Genetic polycythemia

ORPHA:250165

Polycythemia vera

Acquired primary erythrocytosis · Osler-Vaquez disease

ORPHA:729

Primary familial polycythemia

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

ORPHA:90042