Autosomal recessive spastic paraplegia type 76 (SPG76) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC33A1 gene, which is responsi...

Autosomal recessive spastic paraplegia type 77 (SPG77) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC33A1 gene, which is responsi...

Autosomal recessive spastic paraplegia type 78 (SPG78) 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 i...

Autosomal recessive spastic paraplegia type 9B (SPG9B) 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. Symptoms usually be...

Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome (ARSA-BD) is a rare genetic disorder characterized by progressive ataxia (loss of coordination), blindness, and deafness. It is caused by mutations in the PEX1 gene, which is r...

Autosomal recessive spondylometaphyseal dysplasia, Megarbane type (SMDM) is a rare genetic disorder characterized by short stature, skeletal abnormalities, and hearing loss. It is caused by mutations in the COL2A1 gene, which is responsible for th...

Autosomal recessive Stickler syndrome is a genetic disorder that affects the eyes, ears, and joints. It is caused by mutations in the COL2A1 gene, which is responsible for producing collagen, a protein that helps give structure to the body's tissu...

Autosomal semi-dominant severe lipodystrophic laminopathy is a rare genetic disorder characterized by the progressive loss of fat tissue in the body, leading to a variety of physical and metabolic complications. It is caused by mutations in the LM...

Autosomal spastic paraplegia type 30 (SPG30) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG30 gene, which is located on chromosom...

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 ...