Disease Directory

Primary ciliary dyskinesia, type 53 is a complex condition that impacts multiple organ systems, including the respiratory, cardiovascular, and central...

Ciliary dyskinesia, primary, 54 is a condition that primarily affects the function of microscopic hair-like structures called cilia, which are essenti...

Ciliopathy is a genetic disorder affecting the cellular cilia, which are essential for various cellular functions. Known genes associated with ciliopa...

Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia that manifests as circular, well-circumscribed patches of red, depressed skin typi...

Cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome is an extremely rare multi-system disorder that primarily affects the liver and the n...

Familial cirrhosis is a form of liver disease in which no clear causative agent can be identified, and it primarily affects liver function. Research h...

Familial cirrhosis with antigenemia is a condition that affects the liver, leading to scarring and compromised liver function. The precise genetic bas...

Cirrhotic cardiomyopathy describes abnormalities in the structure and function of the heart that occur in individuals with cirrhosis. It encompasses s...

Citrin deficiency is a metabolic condition affecting the urea cycle and liver function. It presents in two distinct forms, with the adult-onset type c...

Citrullinemia is a metabolic disorder that affects the urea cycle and the body’s ability to detoxify ammonia, leading to elevated levels of citrulline...

Citrullinemia type I is a metabolic disorder affecting the urea cycle caused by a deficiency in the enzyme argininosuccinate synthase, which is encode...

Citrullinemia type II, also known as adult-onset citrin deficiency, is a severe metabolic condition that typically manifests in adulthood between the...

Adult-onset citrullinemia type II is an inherited metabolic disorder that primarily affects the liver and nervous system, leading to the accumulation...

Class V glucose-6-phosphate dehydrogenase deficiency, also known as G6PD deficiency or favism, is a condition that affects the normal function of red...

Classic Hodgkin lymphoma (CHL) is a type of B-cell lymphoma characterized by the presence of large mononuclear Hodgkin cells and multinucleated Reed-S...

Classic Kaposi sarcoma is a vascular sarcoma that primarily affects the skin of the lower extremities. It is characterized by the appearance of purple...

Classic complement early component deficiency is a condition in which there is a deficiency of one or more of the early components of the classical co...

Classic congenital adrenal hyperplasia is a severe endocrine condition characterized by very low or absent activity of an enzyme in the steroidogenic...

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common form of CAH, characterized by either a simple virilizing or...

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form is a disorder that affects adrenal hormone production, lead...