Disease Directory

SQSTM1-related multisystem proteinopathy is a group of disorders that can affect several body systems. It includes conditions such as Paget disease of...

SRD5A3-congenital disorder of glycosylation is a rare, non-X-linked congenital condition caused by a deficiency in steroid 5 alpha reductase type 3. P...

SSR3-CDG is a rare congenital disorder of glycosylation caused by a deficiency in the SSR3 protein. Glycosylation is a process that helps cells functi...

SSR4-congenital disorder of glycosylation is a rare inherited condition that affects the process of glycosylation, which is important for the proper f...

ST2 diffuse large B-cell lymphoma is a type of cancer that affects B cells, which are a kind of white blood cell. It is categorized as ST2 by the Lymp...

STAT3-related early-onset multisystem autoimmune disease is a condition linked to changes in the STAT3 gene. Although the detailed definition is not a...

STING-associated vasculopathy with onset in infancy (SAVI) is a rare genetic autoinflammatory disorder. It is caused by continuous activation of the S...

STT3A-congenital disorder of glycosylation is a type of congenital disorders of N-linked glycosylation. It is characterized by a range of developmenta...

STT3B-congenital disorder of glycosylation is a rare inherited condition that affects the process of glycosylation—a key process by which sugar molecu...

SUNCT syndrome is a primary headache disorder marked by short, intense attacks of pain on one side of the head. These attacks are usually accompanied...

Saethre-Chotzen syndrome is an inherited condition that affects the shape and structure of the head and face. It is a craniosynostosis syndrome, which...

Sagliker syndrome is a rare bone disease that develops in people with chronic kidney failure undergoing dialysis. It occurs due to high levels of para...

Sakati-Nyhan syndrome is a condition in which people experience abnormalities in the bones of the legs, heart defects present from birth, and unique c...

Salla disease is a condition that primarily affects the nervous system. It is known as the mildest form of the group of disorders that involve the sto...

Salmonella gastroenteritis is a type of food poisoning caused by eating food that contains salmonella bacteria. This condition often happens when food...

Sandhoff disease is a lysosomal disorder within the GM2 gangliosidosis family that primarily affects the nervous system. It is caused by biallelic pat...

Sandhoff disease, adult form is a rare condition that occurs in adults. It is a variant of Sandhoff disease that involves a deficiency of enzymes know...

Information about overview is currently limited for this condition.

Sandhoff disease, juvenile form is a rare condition that is part of a group of disorders affecting the body's ability to break down certain fatty subs...

Sandifer syndrome is a movement disorder that occurs in connection with gastro-oesophageal reflux. It is characterized by paroxysmal dystonic movement...