Autosomal spastic paraplegia type 58 (SPG58) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is involved in the tran...

Autosomal spastic paraplegia type 72 (SPG72) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG72 gene, which is located on chromosom...

Autosomal systemic lupus erythematosus (SLE) is an autoimmune disorder that affects multiple organs and systems in the body. It is a chronic, inflammatory disease that can cause a wide range of symptoms, including fatigue, joint pain, skin rashes,...

Autosomal thrombocytopenia with normal platelets is a rare inherited disorder characterized by a low platelet count in the blood, despite normal platelet production. It is caused by a mutation in the gene that codes for the platelet surface protei...

Osteonecrosis, also known as avascular necrosis, is a disease resulting from the temporary or permanent loss of the blood supply to the bones. Without blood, the bone tissue dies and causes the bone to collapse. If the process involves the bones n...

Avian influenza, also known as bird flu, is a type of influenza virus that primarily affects birds. It can sometimes spread to humans, causing severe respiratory illness. Avian influenza viruses are divided into two categories based on their abili...

Axenfeld anomaly is a rare eye disorder that affects the development of the eye. It is characterized by a thinning of the cornea, a malformation of the iris, and a hole in the iris. It can lead to glaucoma, cataracts, and vision loss....

Axenfeld-Rieger syndrome is a rare genetic disorder that affects the eyes, teeth, and other parts of the body. It is characterized by abnormalities of the front part of the eye, including the iris, the colored part of the eye, and the cornea, the ...

Axial mesodermal dysplasia spectrum is a group of rare genetic disorders that affect the development of the axial skeleton, which includes the spine, ribs, and sternum. These disorders are caused by mutations in genes that are involved in the deve...

Axial spondylometaphyseal dysplasia (SMD) is a rare genetic disorder that affects the bones and joints. It is characterized by short stature, a short neck, and a flattened face. Other features include a short trunk, a narrow chest, and a curved sp...

AXIN2-related attenuated familial adenomatous polyposis (AFAP) is a rare inherited disorder that is caused by mutations in the AXIN2 gene. People with this condition have an increased risk of developing multiple polyps in the colon and rectum, whi...

Giant axonal neuropathy is a rare neuropathy that severely affects the peripheral as well as the central nervous system. The first symptoms appear in early childhood. This disorder is characterized by abnormalities in the peripheral and central ne...

Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy is a rare neurological disorder characterized by progressive weakness and sensory disturbances in the arms and legs. It is caused by the presence of an abnormal protein called...

Ayme-Gripp syndrome is a rare genetic disorder characterized by intellectual disability, seizures, and facial abnormalities. It is caused by a mutation in the GATA1 gene. Symptoms can vary from person to person, but may include delayed development...

Machado-Joseph Disease (MJD-III), also called spinocerebellar ataxia type III, is a rare, inherited, ataxia (lack of muscular control) affecting the central nervous system and characterized by the slow degeneration of particular areas of the brain...

The azygos continuation of the inferior vena cava is a rare anatomical variant in which the azygos vein connects directly to the inferior vena cava. This connection allows blood to bypass the liver and flow directly from the lower body to the hear...