Disease Directory

Coffin-Siris syndrome 6 is a rare genetic condition that is part of the Coffin-Siris syndrome group. It is caused by a mutation in the ARID2 gene. Thi...

Coffin-Siris syndrome 7 is a rare condition that is part of the Coffin-Siris syndrome spectrum. This condition is specifically linked to a mutation in...

Coffin-Siris syndrome 8 is a genetic condition caused by a mutation in the SMARCC2 gene. It belongs to a group of disorders known as Coffin-Siris synd...

Cogan syndrome is a rare autoimmune disorder of unknown origin. It is mainly known for causing inflammation in the eyes, most often affecting the corn...

Cogan-Reese syndrome is a specific form of iridocorneal endothelial (ICE) syndrome. In people with this condition, changes can happen in the iris and...

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

Cohen-Gibson syndrome, also known as COGIS, is a rare genetic condition that is referenced in several medical databases including OMIM, Orphanet, and...

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

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...

Colorado tick fever is an illness that causes fever along with chills, body aches, and vomiting. In some cases, affected individuals may experience a...

Compton-North congenital myopathy is a rare muscle condition that is known by several names including MYPCN, congenital lethal myopathy, and Compton-N...

This condition is a rare developmental defect that affects the adrenal glands and sexual development during embryogenesis. It is caused by pathogenic...

Cooks syndrome is a malformation syndrome that affects the fingertips and nails. It is characterized by the underdevelopment or absence of nails and t...

Cooper-Jabs syndrome is a rare multiple malformation syndrome that was described in two sisters. People with this condition have atresia of the audito...

Cornelia de Lange syndrome is a rare condition that affects growth and development. It is characterized by low birth weight, delayed growth, intellect...

Cornelia de Lange syndrome 1 is a condition caused by a mutation in the NIPBL gene. It is one of the types of Cornelia de Lange syndrome and has been...

Cornelia de Lange syndrome 2 is an X-linked condition that affects multiple body systems, with a particular impact on cardiac and neurological develop...

Cornelia de Lange syndrome 3 is a rare genetic condition that is part of the larger group of disorders known as Cornelia de Lange syndrome. This speci...