Disease Directory

Stickler syndrome, type 5 is a rare genetic condition. It is an autosomal recessive form of Stickler syndrome caused by a mutation in the COL9A2 gene....

Stickler syndrome, type 6 is a rare genetic condition also known as STL6 or Stickler syndrome, type VI. Information about the detailed definition of t...

Stickler syndrome, type I, nonsyndromic ocular is a rare genetic disorder that primarily affects the eyes. Although detailed definition information is...

Stimmler syndrome is a rare condition that has been reported in only two cases. It is characterized by a combination of features including a smaller h...

Stormorken syndrome, also known as Stormorken-Sjaastad-Langslet syndrome, is a rare condition that has been described in a single family. This disorde...

Stromme syndrome is an autosomal recessive congenital disorder that affects multiple organ systems, manifesting primarily as intestinal atresia, varia...

Sturge-Weber syndrome is a rare congenital neurocutaneous disorder marked by distinctive facial capillary malformations and cerebral vascular anomalie...

Stüve-Wiedemann syndrome 1 is a rare, inherited condition that primarily affects the bones. It is known as a congenital skeletal dysplasia, meaning th...

Sugarman brachydactyly is a rare, genetic, congenital limb malformation. It is mainly characterized by short fingers with major shortening of the prox...

Summitt syndrome is an extremely rare condition first described in two brothers. It is characterized by a range of physical features including differe...

Sunflower syndrome is a rare epileptic disorder that is triggered by bright light. During a seizure, individuals with this condition display a very di...

Susac syndrome is a rare disorder that mainly affects the brain, eyes, and ears. People with this condition may experience problems in the central ner...

Sydenham chorea is a neurological disorder marked by rapid, jerky, irregular, and involuntary movements, especially affecting the face and limbs. Peop...

T cell and NK cell immunodeficiency is a primary immunodeficiency disease that affects multiple parts of the immune system. This condition specificall...

T lymphoblastic leukemia/lymphoma is a cancer that starts in early T-cell white blood cells called lymphoblasts. This condition can appear in two diff...

Information about overview is currently limited for this condition.

T-B+ severe combined immunodeficiency (SCID) is a group of rare disorders that affect the immune system. In this condition, there is a lack of functio...

T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta is a rare immune disorder that has been identified by its specific abnormalit...

T-B+ severe combined immunodeficiency due to CD45 deficiency is a rare immune disorder that is sometimes also called CD45 deficiency or T-B+ SCID due...

T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency is a type of severe combined immunodeficiency that affects the immune system. This...