Disease Directory

Christianson syndrome is a very rare condition that mainly affects the brain and body development. It is a type of syndromic intellectual disability c...

Chudley-McCullough syndrome is a rare condition that has been documented in genetic and medical databases. It is known by several names including CMCS...

Chuvash polycythemia is a rare genetic condition present from birth. It is characterized by higher than normal levels of hemoglobin, hematocrit, and e...

Clark-Baraitser syndrome is a rare condition that is linked to neurodevelopmental challenges. Although a full definition is not available, the conditi...

Clouston syndrome, also known as hidrotic ectodermal dysplasia, is a rare genetic condition. It is mainly characterized by a triad of symptoms includi...

Coats disease is a rare eye condition that affects the retina. It is marked by abnormal blood vessels in the retina (retinal telangiectasia) that leak...

Coats plus syndrome is a multisystem disorder that affects several parts of the body. People with this condition may have problems with the eyes, brai...

Cobb syndrome is a rare condition marked by the presence of vascular lesions that affect multiple tissues including the skin, muscles, bones, and spin...

Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is a multisystem condition that affects many parts of the body. It is caused by c...

Cockayne syndrome is a multisystem condition characterized by short stature, a distinctive facial appearance, premature aging, photosensitivity, progr...

Cockayne syndrome type 1 is a rare genetic condition caused by mutations in the ERCC8 gene. This gene is important for the repair of damaged DNA. Chan...

Cockayne syndrome type 2 is a rare genetic disorder that affects the way cells repair DNA damage. This condition is caused by mutations in the ERCC6 g...

Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes premature aging. People with this...

Coffin-Lowry syndrome is an uncommon, multi-system neurodevelopmental condition that primarily affects growth, skeletal development, and brain functio...

Coffin-Siris syndrome (CSS) is a very rare congenital condition that affects multiple body systems and is present from birth. It is best known for und...

Coffin-Siris syndrome 1 is a rare genetic condition caused by a mutation in the ARID1B gene. This condition is one form of Coffin-Siris syndrome, and...

Coffin-Siris syndrome 10 (also known as CSS10) is a rare genetic condition that is recognized in genetic databases such as OMIM (OMIM:618506) and GARD...

Coffin-Siris syndrome 11 (also known as CSS11) is a rare condition that is noted in medical records with the identifier OMIM:618779. While detailed de...

Coffin-Siris syndrome 12 (CSS12) is a rare genetic condition associated with changes in the BICRA gene. It is recognized in the OMIM database (OMIM:61...

Coffin-Siris syndrome 5 is a condition that affects multiple body systems and is specifically caused by mutations in the SMARCE1 gene. This syndrome i...