Disease Directory

Aicardi-Goutieres syndrome 5 is a rare condition that occurs when there is a mutation in the SAMHD1 gene. It is part of the Aicardi-Goutieres syndrome...

Aicardi-Goutieres syndrome 6 is a form of Aicardi-Goutieres syndrome that occurs when there is a mutation in the ADAR gene. This condition is part of...

Aicardi-Goutieres syndrome 7 is a rare subtype of Aicardi-Goutieres syndrome that is caused by a mutation in the IFIH1 gene. This genetic change is at...

Aicardi-Goutieres syndrome 8 is a rare condition that affects the brain. It is described as a type I interferonopathy, which means that the immune sys...

Aicardi-Goutieres syndrome 9 is a rare type I interferonopathy that affects the brain and other organs. It is marked by severe developmental delay and...

Al Gazali Khidr Prem Chandran syndrome is a rare disorder characterized by three main features: cherubism, optic atrophy leading to visual impairment,...

Al Kaissi syndrome is an autosomal recessive developmental disorder. It is marked by growth retardation, spine malformation (especially of the cervica...

Al-Gazali syndrome is a rare genetic condition that is inherited in an autosomal recessive pattern. It is characterized by joint contractures, skeleta...

Al-Raqad syndrome, also known as AL-RAQAD syndrome or ARS, is a rare condition that has been documented in medical literature. There is limited inform...

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 deletion in a specific region of chromosome 20 that can affect multiple...

Alagille syndrome due to a JAG1 point mutation is a rare genetic condition that affects many body systems. It is caused by a change in the JAG1 gene a...

Alagille syndrome due to a NOTCH2 point mutation is a genetic disorder affecting multiple organ systems, particularly the liver and heart. It is cause...

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...

Alexander disease is a neurological condition that affects the white matter of the brain and spinal cord and belongs to a group of disorders called le...

Alexander disease type I, also known as AxD type I, is a rare neurological condition that affects the brain’s support cells, called astrocytes. It is...

Alexander disease type II is a rare disorder that affects the brain by impacting astrocytes, the cells that support brain function. It is classified a...

Alkhurma hemorrhagic fever is a disease caused by an infection with the Alkhumra hemorrhagic fever virus. It is known by several names, including Alkh...

Information about the overall condition is currently limited for this condition. Available sources do not provide a detailed definition of Alkuraya-Ku...

Allan-Herndon-Dudley syndrome is a neurodevelopmental disorder characterized by significant neuromuscular impairment and severe cognitive deficiency....