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"

12 matching diseasesClear search ×

Congenital secondary polycythemia

Congenital secondary erythrocytosis

ORPHA:238536

Acquired secondary polycythemia

Acquired secondary erythrocytosis

ORPHA:238547

Autosomal dominant secondary polycythemia

Autosomal dominant secondary erythrocytosis

ORPHA:247511

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

Chuvash erythrocytosis

Chuvash polycythemia · Von Hippel-Lindau-dependent polycythemia

ORPHA:238557

Congenital ichthyosiform erythroderma

CIE · Erythrodermic ichthyosis

ORPHA:79394

Congenital lethal erythroderma

ORPHA:1954

Congenital microcoria

Congenital miosis

ORPHA:566

Congenital ptosis

ORPHA:91411

Gaisböck syndrome

Stress erythrocytosis · Stress polycythemia

ORPHA:90041

Primary familial polycythemia

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

ORPHA:90042

Secondary erythromelalgia

Secondary erythermalgia

ORPHA:529864