Rare Disease Library

Distal renal tubular acidosis

Classic RTA · Familial distal primary acidosis

Familial primary hyperparathyroidism

Familial primary localized cutaneous amyloidosis

FPLCA

Gelatinous drop-like corneal dystrophy

GDCD · Primary familial amyloidosis of the cornea

Inherited human prion disease

Familial prion disease · Genetic human prion disease

Primary familial polycythemia

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

Primary renal tubular acidosis