Disease Directory

Information about the overview of Silver-Russell syndrome 1 is currently limited for this condition. Silver-Russell syndrome 1 (SRS1) is identified by...

Silver-Russell syndrome 3 (also known as SRS3, growth restriction, severe, with distinctive facies, or GRDF) is a rare condition that has been associa...

Silver-Russell syndrome 5 is a rare genetic condition with limited detailed information available. It is identified by sources such as OMIM (OMIM:6189...

Silverman-Handmaker type dyssegmental dysplasia is a rare, genetic bone disorder that affects growth and bone development. It is a form of neonatal sh...

Simpson-Golabi-Behmel syndrome is a rare condition that affects many parts of the body. It is described as an X-linked multiple congenital anomalies s...

Simpson-Golabi-Behmel syndrome type 1 is a rare genetic condition defined by a mutation in the GPC3 gene. It is one form of Simpson-Golabi-Behmel synd...

Simpson-Golabi-Behmel syndrome type 2 is an extremely rare and severe condition that presents early in life. It is classified as an overgrowth syndrom...

Sinding-Larsen-Johansson disease is a condition that affects the area where the patellar tendon attaches to the kneecap. It is a type of osteochondros...

Singleton-Merten dysplasia is a rare condition that affects several parts of the body. It is known for dental dysplasia (problems with the development...

Singleton-Merten syndrome 1 is a rare condition that falls under the category of singleton-Merten dysplasias. It is characterized by its association w...

Singleton-Merten syndrome 2 is a rare disorder that is a type of singleton-Merten dysplasia. This condition is caused by a mutation in the DDX58 gene,...

Sjögren syndrome is an autoimmune disorder characterized by the immune system attacking glands that produce tears and saliva, leading to hallmark symp...

Sjogren-Larsson syndrome is a neurocutaneous disorder caused by an inborn error of lipid metabolism. People with this condition have changes in both t...

Skraban-Deardorff syndrome is a neurodevelopmental disorder characterized by intellectual disability, global developmental delay, and distinctive faci...

Slti-Salem syndrome is a rare disease. Detailed information about this condition is currently limited in medical literature.

Smith-Lemli-Opitz syndrome is a congenital condition characterized by multiple physical anomalies, intellectual challenges, and behavioral difficultie...

Smith-Magenis syndrome is a multisystem genetic condition that affects neurological development, sleep regulation, growth, and facial skeletal formati...

Smith-McCort dysplasia is a rare skeletal condition that affects bone growth and shape. People with this condition usually have distinctive facial fea...

Smith-McCort dysplasia 1 is a rare genetic condition that is caused by a mutation in the DYM gene. This condition is defined by a specific change in t...

Smith-McCort dysplasia 2 is a rare condition that falls under the category of Smith-McCort dysplasias. It is defined by the presence of a mutation in...