Rare Disease Library

Congenital factor XI deficiency

Hemophilia C · PTA 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

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Carnitine-acylcarnitine translocase deficiency

CACT deficiency

Combined deficiency of factor V and factor VIII

F5F8D · FV and FVIII combined deficiency

Combined deficiency of factor VII and factor X

Complement component 3 deficiency

C3 deficiency

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Congenital adrenal hyperplasia due to cytochrome POR deficiency · POR 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 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

Dopamine beta-hydroxylase deficiency

DBH deficiency

Familial apolipoprotein A5 deficiency

Familial apolipoprotein A-V deficiency · Familial APOA5 deficiency

Familial apolipoprotein C-II deficiency

Familial apoC-II deficiency · Familial APOC2 deficiency

Familial LCAT deficiency

Complete LCAT deficiency · FLD

Familial lipase maturation factor 1 deficiency

Familial LMF1 deficiency

Fatty acyl-CoA reductase 1 deficiency

PFCRD · FAR1 deficiency

Formiminoglutamic aciduria

FTCD deficiency · Formiminotransferase cyclodeaminase deficiency

Fructose-1,6-bisphosphatase deficiency

FBPase deficiency · Fructose-1,6-diphosphatase 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

Histidinemia

HAL deficiency · HIS deficiency

Immunodeficiency with factor I anomaly

Complete factor I deficiency

Isolated thyrotropin-releasing hormone deficiency

Isolated TRF deficiency · Isolated TRH deficiency

Laron syndrome

Complete growth hormone insensitivity · GH receptor deficiency

Lysosomal acid lipase deficiency

LAL deficiency · LALD

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

Moderate hemophilia B

Moderate congenital F9 deficiency · Moderate congenital factor IX deficiency

Nijmegen breakage syndrome-like disorder

Microcephaly and chromosomal instability without immunodeficiency · NBS-like disorder

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

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Pyruvate dehydrogenase E3 deficiency

DLD deficiency · Dihydrolipoamide dehydrogenase deficiency

RIDDLE syndrome

RNF168 deficiency · Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Severe hemophilia A

Severe congenital factor VIII deficiency · Severe congenital F8 deficiency