Disease Directory

Carnitine palmitoyl transferase 1A deficiency is an inborn error of metabolism that primarily affects the liver and kidneys by impairing mitochondrial...

Carnitine palmitoyl transferase II deficiency, myopathic form is a metabolic muscle disorder that interferes with the breakdown of long-chain fatty ac...

Carnitine palmitoyl transferase II (CPT II) deficiency, neonatal form, is a very rare inherited metabolic disorder that disrupts the body’s ability to...

Carnitine palmitoyl transferase II deficiency, severe infantile form, is a metabolic condition that disrupts the body’s ability to break down long-cha...

Carnitine palmitoyl transferase deficiency is an extremely rare condition. Because few cases have been documented, detailed clinical information is li...

Carnitine palmitoyltransferase II deficiency is an inherited metabolic disorder that affects the body’s ability to oxidize long chain fatty acids with...

Carnitine-acylcarnitine translocase deficiency is a life-threatening disorder of fatty acid oxidation that primarily affects the neonatal period. It i...

Carnosinemia, also known as carnosinase deficiency or homocarnosinosis, is a very rare inherited disorder characterized by a deficiency of serum carno...

Carotid body paraganglioma is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited. It is cha...

Carpal tunnel syndrome is a condition that involves the compression of the median nerve within the wrist, leading to pain, numbness, and tingling duri...

Carpal tunnel syndrome 1 is an inherited condition that affects the nerves of the hand, typically impacting the wrist region where the median nerve is...

Carpal tunnel syndrome 2 is a condition affecting the hand, primarily involving compressive neuropathy of the median nerve. It is linked to alteration...

Carpotarsal osteochondromatosis is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Cartilage cancer is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Cartilage-hair hypoplasia is a disorder primarily affecting the development of bones, particularly the metaphyses, leading to short stature from birth...

Cat-eye syndrome is a chromosomal disorder characterized by a range of malformations affecting multiple organ systems, including the eyes, ears, heart...

Cat-scratch disease is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited. It is caused by...

Cataract - congenital heart disease - neural tube defect syndrome is an extremely rare condition. Because few cases have been documented, detailed cli...

Cataract - microcornea syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Cataract 1 multiple types is an inherited eye condition characterized by opacification of the lens, often presenting as a nuclear and pulverulent cata...