Disease Directory

Camurati-Engelmann disease (CED) is an inherited bone dysplasia in which the shafts of the long bones, skull, spine, and pelvis become abnormally thic...

Canavan disease is a rare inherited brain disorder in which damage to the white matter prevents normal development and movement. It occurs when harmfu...

Caplan syndrome is a condition where people have both rheumatoid arthritis, an inflammatory joint disease, and pneumoconiosis, a lung disease often ca...

Information about overview is currently limited for this condition.

Carey-Fineman-Ziter syndrome 1 is a rare condition that affects muscle tone and facial development. People with this condition have low muscle tone (h...

Carey-Fineman-Ziter syndrome 2 is a rare condition caused by a mutation in the MYMX gene. This condition is part of the broader group of Carey-Fineman...

Carney complex (CNC) is a rare condition characterized by spotty skin pigmentation, endocrine overactivity, and myxomas. People with this condition ma...

Carney complex - trismus - pseudocamptodactyly syndrome is a rare genetic condition that affects both the heart and the hands. It is part of the Carne...

Carney complex type 2 is a rare condition that falls under the group of Carney complex disorders. Although a detailed definition is not available, thi...

Carney complex, type 1 is a rare condition that is defined by the presence of a mutation in the PRKAR1A gene. This mutation leads to the development o...

Carney triad is a very rare condition that is not passed from parents to children. It is known for a combination of three types of tumors: gastrointes...

Carney-Stratakis syndrome is a rare familial condition that has been described relatively recently. It is characterized by the occurrence of both gast...

Caroli disease is a rare congenital liver condition. It is characterized by non-obstructive cystic dilatations of the bile ducts inside the liver and,...

Caroli syndrome is a rare genetic liver condition. It is marked by multiple cystic dilatations in both the major and smaller bile ducts along with con...

Carpenter syndrome is an extremely rare condition that is inherited in an autosomal recessive manner. It is marked by the early closing of skull sutur...

Castleman disease is a benign lymphoproliferative disorder that affects the lymphatic system and can present in either a localized or multicentric for...

Castleman-Kojima disease is a clinicopathologic variant of multicentric Castleman's disease. It is also known as TAFRO syndrome, which stands for thro...

Catel-Manzke syndrome is a rare disorder that affects bone development. People with this condition show characteristic changes in the fingers and face...

Cayman type cerebellar ataxia is a rare disorder that affects the cerebellum, the part of the brain that helps control movement and balance. People wi...

Cenani-Lenz syndactyly syndrome is a congenital condition that causes malformations in the limbs. People with this condition often have complex syndac...