Auriculoosteodysplasia is a rare genetic disorder characterized by malformations of the ears, bones, and teeth. It is caused by a mutation in the GJA1 gene, which is responsible for the production of connexin 43, a protein that helps cells communi...

Frey syndrome is a rare disorder that most often occurs as a result of surgery in the area near the parotid glands. The parotid glands are the largest salivary glands in the body located just below the ears on either side of the face. The main sym...

Autism spectrum disorder is a condition related to brain development that impacts how a person perceives and socializes with others, causing problems in social interaction and communication. The disorder also includes limited and repetitive patter...

Autism spectrum disorder is a condition related to brain development that impacts how a person perceives and socializes with others, causing problems in social interaction and communication. The disorder also includes limited and repetitive patter...

Autism spectrum disorder due to AUTS2 deficiency is a rare genetic disorder caused by a mutation in the AUTS2 gene. This mutation results in a deficiency of the AUTS2 protein, which is involved in the development of the brain and nervous system. S...

Autism spectrum disorder-epilepsy-arthrogryposis syndrome (ASD-EP-AR) is a rare genetic disorder characterized by the presence of autism spectrum disorder (ASD), epilepsy, and arthrogryposis (joint contractures). It is caused by a mutation in the ...

Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (BCKDK) is a rare genetic disorder that affects the brain and nervous system. It is caused by a mutation in the BCKDK gene, which is responsible for producing ...

Autism-facial port-wine stain syndrome is a rare genetic disorder characterized by autism spectrum disorder, facial port-wine stains, and other physical and neurological abnormalities. It is caused by a mutation in the PIK3CA gene, which is respon...

Autoimmune encephalitis is a type of brain inflammation caused by the body's own immune system attacking healthy brain cells. It can cause a wide range of neurological symptoms, including confusion, memory loss, seizures, and difficulty speaking. ...

Autoimmune encephalitis is a type of brain inflammation caused by the body's own immune system attacking healthy brain cells. It can cause a wide range of neurological symptoms, including confusion, memory loss, seizures, and difficulty speaking. ...

Autoerythrocyte sensitization syndrome (AESS) is a rare condition in which a person's body develops an immune response to their own red blood cells. This can lead to anemia, fatigue, and other symptoms. AESS is thought to be caused by an autoimmun...

Autoimmune blistering diseases are a group of rare skin disorders in which the body’s immune system mistakenly attacks healthy tissue. These diseases cause blisters to form on the skin and mucous membranes. Common autoimmune blistering diseases ...

Autoimmune encephalopathy with parasomnia and obstructive sleep apnea (AEPOSA) is a rare neurological disorder characterized by an autoimmune response to the brain that causes abnormal sleep patterns, including parasomnias (abnormal behaviors duri...

Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (AEE-SCID) is a rare, inherited disorder that affects the immune system. People with AEE-SCID have a weakened immune system, which makes them more susceptible ...

Autoimmune hemolytic anemia, warm type is a type of autoimmune disorder in which the body's immune system mistakenly attacks and destroys its own red blood cells. This type of anemia is caused by the production of antibodies that attach to the red...

Autoimmune hepatitis is a chronic, progressive liver disease caused by an abnormal immune response. It occurs when the body's immune system mistakenly attacks healthy liver cells, leading to inflammation and damage to the liver. Symptoms of autoim...