Disease Directory

Communicating congenital bronchopulmonary-foregut malformation is a congenital structural disorder that affects both the respiratory and gastrointesti...

Compartment syndrome is a condition in which rising pressure within a confined muscle compartment leads to reduced blood flow and potential tissue inj...

Complement component 2 deficiency is a genetic condition that primarily affects the immune system, resulting from mutations in the C2 gene. Individual...

Complement component 3 deficiency is a rare genetic disorder that affects the body’s immune system, resulting in an increased vulnerability to infecti...

Complement component 4a deficiency is a condition caused by a mutation in the C4A gene, affecting the classic complement pathway of the immune system....

Complement component 4b deficiency is a condition caused by mutations in the C4B gene that result in reduced levels of a key protein in the complement...

Complement component 5 deficiency is a rare genetic disorder that affects the immune system by impairing the production or function of the fifth compl...

Complement component 6 deficiency is a condition caused by mutations in the C6 gene that affect the body’s complement system, a key component of the i...

Complement component 7 deficiency is an inherited condition caused by mutations in the C7 gene that result in decreased levels of the complement C7 pr...

Complement component 9 deficiency is a condition defined by a mutation in the C9 gene, which is responsible for producing a key component of the immun...

Complement component C1r/C1s deficiency is a condition characterized by an inability to produce functional C1r or C1s proteins due to an underlying de...

Complement component C1s deficiency is a rare condition that results in a defect of the classical complement pathway, leading to impaired immune compl...

Complement deficiency is a disorder of the immune system that occurs when components of the complement pathway do not function properly. This conditio...

Complement factor H deficiency is an inherited condition affecting the regulation of the immune system’s complement pathway. It is caused by pathogeni...

Complement factor I deficiency is a very rare immunological condition that affects the complement system, an important part of the body’s defense agai...

Complement receptor deficiency is a condition characterized by a disruption in a complement receptor involved in the immune response. The exact factor...

Complete androgen insensitivity syndrome (CAIS) is a form of disorder of sex development in which individuals with a 46,XY karyotype develop typically...

Complete atrioventricular canal (CAVC), also known as complete atrioventricular septal defect, is a congenital heart defect characterized by a combine...

Complete atrioventricular canal-left heart obstruction syndrome is a congenital heart condition characterized by complex structural abnormalities that...

Complete atrioventricular canal-tetralogy of fallot syndrome is a complex congenital heart condition that combines features of a complete atrioventric...