Rare Disease Library

Dihydropyrimidine dehydrogenase deficiency

Familial pyrimidinemia

Familial afibrinogenemia

Familial dysfibrinogenemia

Familial hypercholanemia

Hereditary hypercholanemia

Familial hyperprolactinemia

Familial isolated prolactin receptor deficiency

Paroxysmal kinesigenic dyskinesia

Familial PKD · Familial paroxysmal kinesigenic dyskinesia

Primary familial polycythemia

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