Rare Disease Library

Mild hemophilia B

Mild congenital factor IX deficiency · Mild congenital F9 deficiency

3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonylglycinuria · MCC deficiency

Acatalasemia

Catalase deficiency

Acquired hemophilia B

Acquired factor IX deficiency · Acquired F9 deficiency

Allan-Herndon-Dudley syndrome

AHDS · MCT8 deficiency

Aromatase deficiency

Congenital estrogen deficiency

Autosomal recessive extra-oral halitosis

Methanethiol oxidase deficiency · MTO-deficiency

Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity

Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity · CD16 deficiency

Carbamoyl-phosphate synthetase 1 deficiency

CPS1 deficiency · CPS1D

Carnitine-acylcarnitine translocase deficiency

CACT deficiency

Coenzyme Q10 deficiency

Primary coenzyme Q10 deficiency · CoQ10 deficiency

Combined immunodeficiency due to CD27 deficiency

CD27 deficiency · Autosomal recessive lymphoproliferative disease due to CD27 deficiency

Common variable immunodeficiency phenotype due to CD19/CD81 deficiency

CVID phenotype due to CD19/CD81 deficiency · CD19 deficiency

Complement component 3 deficiency

C3 deficiency

Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome

CD55 deficiency · CHAPLE syndrome

Congenital alpha2-antiplasmin deficiency

Congenital deficiency in alpha-fetoprotein

Congenital enterocyte heparan sulfate deficiency

Congenital enteropathy due to enteropeptidase deficiency

Congenital enterokinase 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

Congenital fibrinogen deficiency

Congenital high-molecular-weight kininogen deficiency

Congenital hyperinsulinism due to HNF4A deficiency

Hyperinsulinemic hypoglycemia due to HNF4A deficiency

Congenital intrinsic factor deficiency

Congenital pernicious anemia · Gastric intrinsic factor deficiency

Congenital isolated ACTH deficiency

Congenital lactase deficiency

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

COX deficiency, French-Canadian type · Cytochrome C oxidase deficiency, French-Canadian type

Congenital microcoria

Congenital miosis

Congenital muscular dystrophy with integrin alpha-7 deficiency

Congenital muscular dystrophy with ITGA7 deficiency

Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency

MKL1-related neutrophil motility defect · Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency

Congenital plasminogen activator inhibitor type 1 deficiency

Congenital PAI-1 deficiency

Congenital prekallikrein deficiency

Congenital sucrase-isomaltase deficiency

CSID · Congenital sucrose intolerance

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

Congenital vertebral-cardiac-renal anomalies syndrome

Congenital NAD deficiency disorder

Congenital vitamin K-dependent coagulation factors deficiency

Familial benign copper deficiency

Familial benign hypocupremia

Fatal infantile cytochrome C oxidase deficiency

Fatal infantile COX deficiency · Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency

Fatty acyl-CoA reductase 1 deficiency

PFCRD · FAR1 deficiency

Formiminoglutamic aciduria

FTCD deficiency · Formiminotransferase cyclodeaminase deficiency

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

Glycogen storage disease type IV, congenital neuromuscular form · Glycogenosis type IV, congenital neuromuscular form

Hemophilia A

Congenital Factor VIII deficiency · Congenital F8 deficiency