Cohen syndrome is a rare genetic developmental disorder. It is characterized by features such as a smaller head size (microcephaly), unique facial app...

COL1A1-related Ehlers-Danlos syndrome is a type of Ehlers-Danlos syndrome caused by a variant in the COL1A1 gene. This condition can include features...

COL1A2-related Ehlers-Danlos syndrome is a type of Ehlers-Danlos syndrome that occurs because of any variant in the COL1A2 gene. In people with this c...

COL1A2-related osteogenesis imperfecta is a rare genetic condition that affects the strength and quality of bones. This condition is a type of osteoge...

COL2A1-related spondyloepiphyseal dysplasia is a type of skeletal disorder caused by changes in the COL2A1 gene. This condition affects the developmen...

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 1, also known as Crisponi syndrome, is a rare and serious disorder. It is characterized by severe muscle contractions a...

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

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

Cole-Carpenter syndrome is an extremely rare bone disorder. It has features similar to osteogenesis imperfecta, which means that the bones may be very...

Cole-Carpenter syndrome 1 is a rare genetic condition caused by a mutation in the P4HB gene. This condition is noted in medical literature as one form...

Cole-Carpenter syndrome 2 is a rare genetic condition caused by a mutation in the SEC24D gene. This condition is one of the types of Cole-Carpenter sy...

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...