AGAT deficiency is a very rare inherited disease that blocks the first step of the body’s creatine-making pathway. The AGAT enzyme (made by the GATM gene) ...

AGAT deficiency (also called arginine:glycine amidinotransferase deficiency or GATM-related cerebral creatine deficiency). This is a very rare, inherited ...

Bantu siderosis is an iron overload disease seen mostly in parts of sub-Saharan Africa. The body slowly takes in too much iron over many years. Most of the ...

African iron overload is a condition in which too much iron slowly builds up in the body, especially in people from parts of sub-Saharan Africa and their ...

Nocardiosis is an infection caused by Nocardia bacteria. These are thin, branching, gram-positive bacteria that live in soil, dust, and water. They are ...

Species in the genus Actinomyces are classically anaerobic or microaerophilic—they prefer little or no oxygen—and cause actinomycosis. By contrast, the ...

Advanced Sleep-Wake Phase Disorder is a body-clock (circadian) condition. In this disorder, the person’s internal clock runs earlier than normal. Because of ...

Advanced Sleep Phase Syndrome (also called Advanced Sleep-Wake Phase Disorder) is a body-clock problem where your internal day runs earlier than most people. ...

Wissler–Fanconi syndrome is a very rare inflammatory illness that looks like sepsis at first glance: people develop high, swinging fevers, a repeating rash, ...

Adult-onset Still disease is a rare inflammatory disease of the whole body. It usually starts in young or middle adulthood. The immune system becomes ...

Finkel disease is another name for Finkel-type spinal muscular atrophy (SMAFK). It is a rare, inherited motor-neuron disorder that usually begins in adulthood ...

Autosomal dominant late-onset spinal muscular atrophy (AD-LO-SMA) is a group of rare genetic disorders in which the lower motor neurons in the spinal cord ...

Autosomal dominant adult-onset proximal spinal muscular atrophy is a rare inherited nerve-muscle disorder. It mainly affects the motor neurons in the spinal ...

Adult-onset proximal spinal muscular atrophy (often called SMA type 4) is a rare, inherited nerve-muscle disease. It harms the lower motor neurons. These are ...

Adult-onset nemaline myopathy is a rare muscle disease that starts in adult life and slowly or quickly weakens the muscles close to the center of the body, ...

Adult-onset vitelliform macular dystrophy (AOVMD) is a slow, usually mild, retinal condition that appears in adults, most often between ages 30 and 60. It ...

Adult-onset foveomacular vitelliform dystrophy (AOFVD)—also called adult-onset vitelliform macular dystrophy (AVMD) or adult vitelliform maculopathy—is a rare ...

Adult-onset foveomacular dystrophy is a macular condition that usually starts in adults. It causes a round, slightly raised, yellow “egg-yolk–like” spot in the ...

Adult-onset foveomacular vitelliform dystrophy is a rare, usually slow-moving eye condition that starts in adulthood (often in your 40s–60s). It affects the ...

Adult-onset distal myopathy due to VCP mutation is a rare, inherited muscle disease. It usually starts in mid-life. The first signs are weakness and thinning ...