Disease Directory

Senior-Loken syndrome 8 is a rare genetic condition characterized by a mutation in the WDR19 gene. This condition is one form of Senior-Loken syndrome...

Senior-Loken syndrome 9 is a rare form of Senior-Loken syndrome caused by a mutation in the TRAF3IP1 gene. This condition is identified as part of a g...

Sertoli-Leydig cell tumor is a type of sex cord-gonadal stromal tumor. It is made up of Leydig cells, Sertoli cells, and fibroblasts in varying propor...

Sezary syndrome is an aggressive form of cutaneous T-cell lymphoma. It is characterized by a triad of findings that include widespread red skin (eryth...

Sharpin-related autoinflammatory syndrome is a rare condition where the body's immune system becomes unusually active, leading to inflammation. This c...

Shashi-Pena syndrome is a rare condition that is recognized by its identification in specialized databases such as OMIM and Orphanet. Although a detai...

Sheehan syndrome is an uncommon condition that affects people who have had severe bleeding after giving birth. Heavy blood loss can lead to low blood...

Sheldon-Hall syndrome is a rare multiple congenital contracture syndrome. It is known for causing contractures in the distal joints (such as those in...

Shiga toxin-associated hemolytic uremic syndrome is a rare condition that involves damage to blood vessels. This results in the breaking apart of red...

Shprintzen-Goldberg syndrome is a very rare genetic disorder that affects many parts of the body. It is characterized by early fusion of skull bones (...

Shukla-Vernon syndrome is a rare condition with limited published information. It is also known by names such as X-linked recessive, SHUKLA-VERNON SYN...

Shwachman-Diamond syndrome is a rare multisystemic condition that affects multiple organs in the body. People with this condition often have mild chro...

Shwachman-Diamond syndrome 1 is a condition that affects multiple systems, in particular the skeletal system and the bone marrow, and is characterized...

Shwachman-Diamond syndrome 2 (SDS2) is a rare condition that affects several body systems. It is mainly characterized by difficulties with the pancrea...

The Shwartzman phenomenon is a rare condition that involves damage to small blood vessels. It was first observed in rabbits using a two-step process w...

Siberian tick typhus is a type of spotted fever caused by an infection from the bacteria Rickettsia sibirica. It is transmitted to people through tick...

Siegler-Brewer-Carey syndrome is a rare condition that affects many parts of the body. It leads to problems in the eyes (such as cataracts), ears (oti...

Sifrim-Hitz-Weiss syndrome is a rare condition caused by mutations in the CHD4 gene. People with this condition often face multiple congenital anomali...

Sillence syndrome, also known as brachydactyly-symphalangism syndrome, is a rare condition that mainly affects the bones of the hands and feet. It is...

Silver-Russell syndrome is a rare condition that mainly affects growth. It is characterized by growth retardation that starts before birth, along with...