Rare Disease Library

Primary familial polycythemia

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

Acquired secondary polycythemia

Acquired secondary erythrocytosis

Chuvash erythrocytosis

Chuvash polycythemia · Von Hippel-Lindau-dependent polycythemia

Congenital erythropoietic porphyria

CEP · Günther disease

Congenital glaucoma

Buphthalmia · Buphthalmos

Congenital ichthyosiform erythroderma

CIE · Erythrodermic ichthyosis

Congenital lethal erythroderma

Congenital microcoria

Congenital miosis

Congenital primary aphakia

Congenital primary megaureter

Congenital primary megalo-ureter

Congenital ptosis

Congenital secondary polycythemia

Congenital secondary erythrocytosis

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

Gaisböck syndrome

Stress erythrocytosis · Stress polycythemia

Polycythemia vera

Acquired primary erythrocytosis · Osler-Vaquez disease

Primary congenital hypothyroidism