Rare Disease Library

Congenital intrinsic factor deficiency

Congenital pernicious anemia · Gastric intrinsic factor deficiency

Acquired factor V deficiency

Acquired factor VII deficiency

Acquired factor X deficiency

aFX

Acquired factor XI deficiency

aFXI

Acquired factor XIII deficiency

aFXIII

Acquired hemophilia A

Acquired factor VIII deficiency · Acquired F8 deficiency

Acquired hemophilia B

Acquired factor IX deficiency · Acquired F9 deficiency

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

Congenital factor II deficiency

Dysprothrombinemia · Hypoprothrombinemia

Congenital factor V deficiency

Owren disease · Parahemophilia

Congenital factor VII deficiency

Congenital proconvertin deficiency · Hypoproconvertinemia

Congenital factor X deficiency

Congenital Stuart factor deficiency · Stuart-Prower factor deficiency

Congenital factor XI deficiency

Hemophilia C · PTA deficiency

Congenital factor XII deficiency

Congenital Hageman factor deficiency

Congenital factor XIII deficiency

Fibrin-stabilizing factor deficiency

Fatty acyl-CoA reductase 1 deficiency

PFCRD · FAR1 deficiency

Galactokinase deficiency

GALK deficiency · GALK-D

Galactose epimerase deficiency

Epimerase deficiency galactosemia · GALE deficiency

Growth delay due to insulin-like growth factor type 1 deficiency

Growth delay-hearing loss-intellectual disability syndrome · IGF-1 deficiency

Guanidinoacetate methyltransferase deficiency

GAMT deficiency

Hemophilia A

Congenital Factor VIII deficiency · Congenital F8 deficiency

Hemophilia B

Congenital F9 deficiency · Christmas disease

Hemophilia B Leyden

Factor IX deficiency, Leyden type · F9 deficiency, Leyden type

Immunodeficiency with factor I anomaly

Complete factor I deficiency

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

Mild hemophilia B

Mild congenital factor IX deficiency · Mild congenital F9 deficiency

OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly

OBSOLETE: Hemolytic uremic syndrome without diarrhea with I factor anomaly · OBSOLETE: aHUS with I factor anomaly

Severe hemophilia B

Severe congenital factor IX deficiency · Severe congenital F9 deficiency

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency