Disease Directory

Timothy syndrome is a multi-system disorder that affects the heart, hands, face, and neurodevelopment. It is caused by pathogenic variants in the CACN...

Timothy syndrome type 1 is a rare condition defined by the presence of cutaneous syndactyly, where there is fusion or webbing of the fingers or toes....

Timothy syndrome type 2 is a rare condition that represents a classical form of Timothy syndrome without cutaneous syndactyly. This means that unlike...

Timothy syndrome, atypical type is an unusual form of a heart condition known as long QT syndrome. This type is notable because it causes a more sever...

Timothy syndrome, classic type is described as the classic form of this rare condition. According to the provided definition, this type includes all f...

Tolchin-Le Caignec syndrome, also known as TOLCAS or intellectual developmental disorder with behavioral abnormalities and variable bone defects, is a...

Tolosa-Hunt syndrome is a condition that causes severe pain around the eye and problems with eye movement. It is thought to be due to a non-specific i...

Toriello-Carey syndrome is a multiple congenital anomaly condition that involves several parts of the body. People with this syndrome often have diffe...

Toriello-Lacassie-Droste syndrome, also known as oculo-ectodermal syndrome, is a rare condition that is primarily defined by the presence of epibulbar...

Townes-Brocks syndrome (TBS) is a rare genetic disorder. It is characterized by a combination of physical features including an imperforate anus, malf...

Townes-Brocks syndrome 1 is a rare genetic condition that is known to affect several parts of the body. People with this condition may have changes th...

Townes-Brocks syndrome 2, also known as TBS2, is a rare genetic condition. Detailed information about this condition is currently limited, and publish...

Treacher Collins syndrome 1 is a craniofacial disorder characterized by distinctive facial features that arise due to abnormalities in bone and soft t...

Treacher Collins syndrome 2 is a form of Treacher Collins syndrome caused by a change in the POLR1D gene. This condition is part of a group of disorde...

Treacher Collins syndrome 3 is a type of Treacher-Collins syndrome caused by a mutation in the POLR1C gene. This condition is part of a group of disor...

Treacher Collins syndrome 4 is a rare genetic condition that is part of a group of disorders affecting facial development. While detailed descriptions...

Treacher Collins syndrome is a congenital disorder that affects the development of the face and head. It is characterized by bilateral, or symmetrical...

Trichinella spiralis infectious disease is caused by an infection with the parasite Trichinella spiralis. This condition is also known by several name...

Troyer syndrome is a rare genetic condition that affects movement and development. It is a form of complex hereditary spastic paraplegia, meaning that...

Tukel syndrome, also known as Cfeom-U, congenital extraocular muscle fibrosis with ulnar hand anomalies, is a rare condition that affects the muscles...