Disease Directory

TREX1-related type 1 interferonopathy is a condition that belongs to a group of disorders known as type 1 interferonopathies. This condition is caused...

TRIM22-related inflammatory bowel disease is a type of inflammatory bowel disease caused by a mutation in the TRIM22 gene. This condition affects the...

TRPM1-related retinopathy is an inherited eye condition that affects how the retina functions. It is caused by bi-allelic variants in the TRPM1 gene,...

Information about overview is currently limited for this condition.

TSH producing pituitary tumor is a rare condition where an adenoma or carcinoma forms in the anterior part of the pituitary gland. This tumor produces...

TSH-secreting pituitary adenoma is a rare tumor found in the front part of the pituitary gland. This tumor produces thyrotropin (TSH), a hormone that...

TSPAN12-related exudative vitreoretinopathy is a rare condition affecting the eyes. It is characterized by abnormal fluid leakage in the retina caused...

TSPAN12-related vitreoretinopathy is an eye condition that affects the retina. It is caused by variants in the TSPAN12 gene. This condition is also kn...

TTC8-related ciliopathy is a rare condition caused by variants in the TTC8 gene. Ciliopathies affect the structure and function of cilia, which are sm...

TTLL5-related retinopathy is a condition that affects the retina and is caused by variants in the TTLL5 gene. These gene changes are linked to issues...

TTN-related myopathy is a disorder of the musculoskeletal system caused by changes in the TTN gene. This gene normally instructs the body on making ti...

TUBB2A-related tubulinopathy is a rare condition caused by genetic changes in the TUBB2A gene that affect the brain's development. This condition is a...

TUBB4A-related neurologic disorder refers to a group of neurological conditions that are directly linked to changes in the TUBB4A gene. These gene mut...

TUBB4B-related ciliopathy is a rare disorder caused by a change in the TUBB4B gene. This gene variant affects the tiny, hairlike structures on cells c...

TWIST1-related craniosynostosis is a condition where one or more of the skull sutures fuse too early due to a mutation in the TWIST1 gene. This early...

Takayasu arteritis is an uncommon inflammatory disease that primarily targets the aorta and other large arteries, causing them to narrow, close, or st...

Tako-tsubo cardiomyopathy, also known as Takotsubo syndrome or broken heart syndrome, is an acute heart condition. It is a recently described conditio...

Tangier disease is a rare disorder of lipoprotein metabolism. It is most well known for causing an almost complete absence of high-density lipoprotein...

Tatsumi factor deficiency is a rare condition with limited available information. The current reliable sources provide minimal details about this cond...

Tatton-Brown-Rahman overgrowth syndrome is a rare disorder characterized by overgrowth, distinctive facial features, and mild to moderate intellectual...