Disease Directory

Coenzyme Q10 deficiency is a genetically heterogeneous metabolic condition characterized by reduced levels of coenzyme Q10, a molecule vital for cellu...

Coenzyme Q10 deficiency, primary, 1 is a multisystem condition caused by mutations in the COQ2 gene that impair coenzyme Q10 production, a key molecul...

Coenzyme Q10 deficiency, primary, 3 is a condition caused by mutations in the PDSS2 gene that disrupt the normal production of coenzyme Q10, a molecul...

Coenzyme Q10 deficiency, primary, 9 (also known as COQ10D9) is an inherited metabolic condition that primarily affects the central nervous system and...

This condition is a complex, multisystem disorder characterized by cognitive challenges together with distinctive facial features, heart defects, grow...

Colchicine poisoning is a potentially life-threatening toxic condition that results from ingesting the drug colchicine or parts of the Colchicum autum...

Cold agglutinin disease is an autoimmune hemolytic anemia characterized by the presence of autoantibodies that become active at temperatures below 30°...

Cold-induced sweating syndrome, also known as CISS or Sohar-Crisponi syndrome, is a condition in which exposure to cold temperatures triggers profuse...

Cold-induced sweating syndrome - hyperthermia spectrum is a condition that appears to involve abnormalities in the regulation of body temperature, lea...

Cold-induced sweating syndrome 2 is a condition characterized by abnormal cold-induced sweating along with a spectrum of musculoskeletal and neuromusc...

Collagen 6-related congenital muscular dystrophy is a condition that primarily affects the muscles and connective tissues, leading to muscle weakness...

Collagen 6-related myopathy is a disorder that affects the musculoskeletal system and encompasses a wide spectrum of muscle weakness and joint issues....

Collagen type III glomerulopathy is a rare kidney disorder that affects the glomeruli, the filtering units of the kidney. It is characterized by an ab...

Collecting duct carcinoma is an aggressive type of kidney cancer that arises from the epithelial cells lining the collecting duct of the renal tubule....

Coloboma of choroid and retina is a congenital ocular defect that arises during embryonic development, characterized by a partial absence of the retin...

Coloboma of eye lens is a congenital condition that involves an abnormal development of part of the eye, particularly affecting the lens. It is presen...

Coloboma of the eyelid is a congenital condition characterized by a missing part of the upper or lower eyelid tissue. This condition is apparent at bi...

Coloboma of inferior eyelid is a rare developmental defect that affects the lower eyelid. It presents as a gap or notch that can vary in size from a s...

Coloboma of iris is a condition characterized by a gap or hole in, or adjacent to, the iris. It may be present from birth or acquired later in life, a...

Coloboma of macula is a rare, non-syndromic developmental defect of the eye that primarily affects the macula, the part of the retina responsible for...