Aicardi-Goutieres syndrome 8 is a type I interferonopathy that primarily affects the nervous system and is characterized by severe developmental delay...

Aicardi-Goutieres syndrome 9 is a type I interferonopathy that primarily affects the nervous system and other organ systems such as the eyes, growth,...

Aicardi syndrome is a rare neurodevelopmental disorder most often seen in females. It is defined by a characteristic triad that includes partial or co...

AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis. It is characterized by a number of serious clinical features that were ob...

AIDS dementia complex is a neurologic condition linked to acquired immunodeficiency syndrome (AIDS). It is mainly associated with HIV-1 viral infectio...

AIDS-related primary central nervous system lymphoma is a type of non-Hodgkin or Hodgkin lymphoma that arises within the central nervous system of ind...

AIPL1-related retinopathy is an inherited retinal disorder that affects the eye’s ability to process visual information. Recognized subtypes, such as...

Akinetopsia is a rare condition in which people lose the ability to perceive motion. It falls under a group of neurological conditions known as agnosi...

AKT2-related familial partial lipodystrophy is a condition that affects the distribution of body fat and is categorized under disorders of lipid metab...

AKT3-related overgrowth spectrum is a developmental condition characterized by abnormal overgrowth affecting the brain and other bodily systems. Recog...

Alacrima, achalasia, and intellectual disability syndrome is a rare genetic condition. The name of the syndrome highlights key features including alac...

Alacrima, congenital, autosomal dominant is a rare condition that is identified by a lack or significant reduction of tear production from birth. The...

Alacrima, congenital, autosomal recessive is a rare condition noted in its name by the presence of alacrima, which means a reduced or absent productio...

Alagille syndrome is a multisystem condition primarily characterized by chronic cholestasis due to a reduced number of intrahepatic bile ducts, along...

Alagille syndrome due to 20p12 microdeletion is a condition associated with a chromosomal deletion in the 20p12 region that can impact multiple body s...

Alagille syndrome due to a JAG1 point mutation is a multisystem condition affecting organs such as the liver, heart, skeleton, eyes, and kidneys. It i...

Alagille syndrome due to a NOTCH2 point mutation is a multisystem disorder that primarily affects the liver, heart, skeleton, and eyes. It is caused b...

AL amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of misfolded immunoglobulin light chains as amyloid fibrils i...

Aland island eye disease is an X-linked recessive retinal condition. It is characterized by reduced pigmentation in the back of the eye (fundus hypopi...

Alanine glyoxylate aminotransferase deficiency is a condition related to plasmalogen biosynthesis. This means that a process in the body that makes im...