Rare Disease Library

Acquired hemophilia A

Acquired factor VIII deficiency · Acquired F8 deficiency

Acquired angioedema

AAE · Acquired C1 inhibitor deficiency

Acquired angioedema with C1Inh deficiency

Acquired angioneurotic edema with C1 inhibitor deficiency · Acquired angioneurotic edema with C1Inh deficiency

Acquired arginine vasopressin deficiency

Acquired CDI · Acquired neurogenic diabetes insipidus

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 B

Acquired factor IX deficiency · Acquired F9 deficiency

Acquired immunodeficiency

Acquired pituitary hormone deficiency

Acquired prothrombin deficiency

Acquired hypoprothrombinemia

Acyl-CoA dehydrogenase 9 deficiency

ACAD9 deficiency

Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies

Acquired adult-onset immunodeficiency · Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Combined deficiency of factor V and factor VIII

F5F8D · FV and FVIII combined deficiency

Combined deficiency of factor VII and factor X

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

Congenital intrinsic factor deficiency

Congenital pernicious anemia · Gastric intrinsic factor deficiency

Fatty acyl-CoA reductase 1 deficiency

PFCRD · FAR1 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

Isolated thyrotropin-releasing hormone deficiency

Isolated TRF deficiency · Isolated TRH deficiency

Medium chain acyl-CoA dehydrogenase deficiency

ACADM deficiency · Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency

Mild hemophilia A

Mild congenital factor VIII deficiency · Mild congenital F8 deficiency

Mild hemophilia B

Mild congenital factor IX deficiency · Mild congenital F9 deficiency

Moderate hemophilia A

Moderate congenital factor VIII deficiency · Moderate congenital F8 deficiency

Non-acquired pituitary hormone 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

Protein S acquired deficiency

Rare acquired deficiency anemia

Severe hemophilia A

Severe congenital factor VIII deficiency · Severe congenital F8 deficiency

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency