Rare Disease Library

Isolated thyrotropin-releasing hormone deficiency

Isolated TRF deficiency · Isolated TRH 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

Ataxia with vitamin E deficiency

AVED · Ataxia with isolated vitamin E deficiency

Congenital factor II deficiency

Dysprothrombinemia · Hypoprothrombinemia

Congenital factor XI deficiency

Hemophilia C · PTA deficiency

Congenital factor XIII deficiency

Fibrin-stabilizing factor deficiency

Congenital intrinsic factor deficiency

Congenital pernicious anemia · Gastric intrinsic factor deficiency

Congenital isolated ACTH deficiency

FADD-related immunodeficiency

Familial hyperprolactinemia

Familial isolated prolactin receptor 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 ATP synthase deficiency

Isolated mitochondrial respiratory chain complex V deficiency

Isolated complex I deficiency

Isolated NADH-coenzyme Q reductase deficiency · Isolated NADH-ubiquinone reductase deficiency

Isolated complex III deficiency

Isolated CoQ-cytochrome C reductase deficiency · Isolated coenzyme Q-cytochrome C reductase deficiency

Isolated congenital hypogonadotropic hypogonadism

Isolated congenital gonadotropin deficiency · Gonadotropic deficiency

Isolated cytochrome C oxidase deficiency

Isolated COX deficiency · Isolated mitochondrial respiratory chain complex IV deficiency

Isolated femoral agenesis/hypoplasia

Isolated congenital femoral deficiency · Isolated congenital short femur

Isolated fibular hemimelia

Isolated congenital longitudinal deficiency of the fibula · Isolated fibular longitudinal meromelia

Isolated follicle stimulating hormone deficiency

Isolated FSH deficiency

Isolated glycerol kinase deficiency

Hyperglycerolemia

Isolated proximal femoral focal deficiency

PFFD · CPFD

Isolated sedoheptulokinase deficiency

Isolated SHPK deficiency

Isolated succinate-CoQ reductase deficiency

Isolated mitochondrial respiratory chain complex II deficiency · Isolated succinate-coenzyme Q reductase deficiency

Isolated sulfite oxidase deficiency

ISOD · Sulfocysteinuria

Isolated thyroid-stimulating hormone deficiency

Isolated thyrotropin deficiency · Isolated TSH deficiency

Isolated ulnar hemimelia

Isolated ulnar deficiency of forearm · Isolated ulnar longitudinal meromelia

Late-onset isolated ACTH deficiency

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

Recurrent infections associated with rare immunoglobulin isotypes deficiency

IgG subclass deficiency with IgA subclass deficiency · Isolated IgG subclass deficiency