Disease Directory

Congenital esophageal diverticulum is a rare malformation of the esophagus that is present at birth. It is characterized by the formation of a false p...

Congenital esophageal stenosis is a condition characterized by an abnormal narrowing of the esophagus present from birth. This condition affects the d...

Congenital eyelid retraction is a very rare kinetic anomaly of the eyelids that is present at birth and can affect either the upper or lower lids. It...

Congenital factor V deficiency is an inherited bleeding disorder characterized by reduced levels of factor V in the plasma, which can lead to a spectr...

Congenital factor VII deficiency is a rare hereditary hemorrhagic condition characterized by a reduced or absent level of coagulation factor VII, whic...

Congenital factor X deficiency is an inherited bleeding disorder that affects the body’s ability to form stable blood clots. It results from changes i...

Congenital factor XI deficiency is an inherited bleeding disorder that affects the body’s ability to form stable blood clots. It results from reduced...

Congenital factor XII deficiency is an inherited disorder that affects the body’s coagulation system. It is caused by defects in the coagulation facto...

Congenital factor XIII deficiency is an inherited bleeding disorder that affects the blood clot stabilization process. It is caused by pathogenic vari...

Congenital fiber-type disproportion myopathy is a genetic muscle disorder that primarily affects the skeletal muscles, with notable weakness and abnor...

Congenital fibrinogen deficiency is a group of inherited coagulation disorders characterized by reduced quantity or impaired function of fibrinogen, a...

Congenital fibrosarcoma, also known as infantile fibrosarcoma or IFS, is a malignant soft tissue tumor that occurs in infants. It typically arises in...

Congenital fibrosis of extraocular muscles is a condition affecting the muscles that control eye movement, often resulting in restricted movement and...

Congenital fibrosis of extraocular muscles type 1 is a condition primarily affecting the muscles that control eye movements. It is caused by mutations...

Congenital generalized hypercontractile muscle stiffness syndrome is a condition characterized by abnormally increased muscle contraction that can res...

Congenital generalized lipodystrophy is an extremely rare autosomal recessive condition characterized by a significant deficiency of fat in subcutaneo...

Congenital generalized lipodystrophy type 1 is an inherited condition characterized by a near total lack of adipose tissue and associated metabolic ab...

Congenital generalized lipodystrophy type 2 is a condition characterized by a near-total lack of subcutaneous fat and severe metabolic abnormalities....

Congenital generalized lipodystrophy type 3 is a condition characterized by an abnormal distribution of body fat due to disruptions in adipose tissue...

Congenital generalized lipodystrophy type 4 is a condition characterized by a generalized loss of adipose tissue combined with distinctive muscle abno...