Disease Directory

Congenital radioulnar synostosis is a skeletal condition characterized by an abnormal fusion of the radius and ulna bones in the forearm, resulting in...

Congenital renal artery stenosis is a condition characterized by a narrowing of the renal arteries that is present from birth. This narrowing can comp...

Congenital reticular ichthyosiform erythroderma is a skin disorder characterized by widespread scaling, reticulated redness of the skin, and associate...

Congenital retinal arteriovenous communication is a rare vascular anomaly of the eye in which abnormal direct connections develop between the retinal...

Congenital right-sided heart lesions are a group of heritable structural heart abnormalities affecting the right side of the heart. These anomalies, w...

Congenital rubella syndrome is an infectious embryofetopathy that occurs when a pregnant woman contracts rubella, allowing the virus to cross the plac...

Congenital secondary polycythemia is a condition present at birth in which there is an increased production of red blood cells. This condition is cons...

Congenital secretory chloride diarrhea 1 is an inherited condition that affects the digestive system, resulting in persistent watery diarrhea and rela...

Congenital secretory sodium diarrhea 3 is a condition characterized primarily by persistent secretory diarrhea due to mutations in the SPINT2 gene. Th...

Congenital secretory sodium diarrhea 8 is a condition marked by persistent secretory diarrhea and related gastrointestinal abnormalities that begin in...

Congenital short bowel syndrome (CSBS) is a very rare intestinal disorder that presents in neonates with a significantly shortened small intestine, ty...

Congenital short bowel syndrome, autosomal recessive, is a condition affecting the gastrointestinal system that is characterized by a significantly sh...

Congenital shoulder dislocation is a condition affecting the shoulder joint that is present at birth. Although the precise genetic basis remains under...

Congenital sialidosis type 2 is a condition that is present from birth and may affect multiple body systems. Although detailed diagnostic features are...

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome is a multisystem disorder characterized by severe...

Congenital smooth muscle hamartoma is a benign skin lesion that typically presents as a localized area of disorganized smooth muscle fibers in the ski...

Congenital sodium diarrhea is a gastrointestinal disorder marked by severe watery diarrhea with high sodium content, leading to hyponatremia and metab...

Congenital stationary night blindness (CSNB) is a visual disorder characterized by difficulties seeing in low light conditions, known as nyctalopia. I...

Congenital stationary night blindness 1A is a non-progressive condition that affects the ability to see in low-light conditions. It is caused by varia...

Congenital stationary night blindness 1B is a non-progressive visual disorder that primarily affects the ability to see in low-light conditions. The c...