Disease Directory

Tay-Sachs disease is a metabolic disorder characterized by an accumulation of GM2 gangliosides due to a deficiency of the enzyme hexosaminidase A. Thi...

Tay-Sachs disease AB variant is an extremely rare, severe disorder affecting the nervous system, characterized by progressive neurological decline. At...

Tay-Sachs disease, B variant, adult form is a rare condition sometimes also known as GM2 gangliosidosis, B variant, adult form or hexosaminidase A def...

Tay-Sachs disease, B1 variant is a rare form of Tay-Sachs disease. It is also known by names such as GM2 gangliosidosis, B1 variant and hexosaminidase...

Tay-Sachs disease, b variant, infantile form is a rare inherited condition that affects the nervous system. Detailed information about how this condit...

Tay-Sachs disease, b variant, juvenile form is a rare condition that is part of a group of disorders sometimes referred to as GM2 gangliosidosis. It i...

Teebi hypertelorism syndrome 1 is a rare genetic condition that mainly affects the facial features. People with this condition often have widely space...

Teebi-Shaltout syndrome is a rare genetic condition that begins in early development. It is marked by a unique set of physical features that include d...

Tel Hashomer camptodactyly syndrome is a rare condition that includes several distinct features. It is characterized by camptodactyly, which means tha...

Temple-Baraitser syndrome is a rare developmental condition that affects multiple parts of the body. People with this condition usually experience sev...

Terrien marginal degeneration is a condition that affects the cornea, the clear front part of the eye. People with this condition experience a thinnin...

Tessier number 4 facial cleft is a very rare congenital condition that affects the face. It is also known by other names such as oblique facial clefti...

Tessier number 5 facial cleft is a rare congenital condition that affects the facial structure. It is part of the group of conditions classified by th...

Tessier number 6 facial cleft is a very rare type of facial cleft. This condition is named as part of a numbering system that categorizes different pa...

Thakker-Donnai syndrome is a rare condition. It is also known by several other names, including Dysmorphism-multiple structural anomalies syndrome, Dy...

Thiel-Behnke corneal dystrophy (TBCD) is a rare eye condition that affects the front part of the cornea. It is characterized by sub-epithelial honeyco...

Thiemann disease, familial form is a very rare genetic bone disorder that affects the ends of the bones in the fingers. People with this condition oft...

Thomas syndrome, also known as Potter sequence-cleft lip/palate-cardiopathy syndrome, is a multisystem condition primarily affecting the kidneys, hear...

Thomsen and Becker disease, also known as myotonia congenita or Batten-Turner congenital myopathy, is a rare genetic condition affecting the skeletal...

Tietz syndrome is a rare genetic condition that primarily affects skin, eyes, hair, and hearing. People with this condition have generalized hypopigme...