ABeta amyloidosis, Italian type is a rare, inherited disorder caused by a mutation in the TTR gene. It is characterized by the accumulation of amyloid deposits in the heart, kidneys, and other organs. Symptoms may include heart failure, kidney fai...

ABetaA21G amyloidosis is a rare, inherited disorder caused by a mutation in the APP gene. It is characterized by the accumulation of amyloid proteins in the body, which can lead to organ damage and other serious health problems. Symptoms of ABetaA...

ABetaL34V amyloidosis is a rare, inherited form of amyloidosis caused by a mutation in the gene that codes for the protein beta-2-microglobulin. This mutation results in the production of an abnormal form of the protein, which accumulates in the b...

A rare disorder involving abnormalities in fat metabolism. The resulting insufficiency of fats and vitamins affect the normal development and function of the body....

A rare disorder involving abnormalities in fat metabolism. The resulting insufficiency of fats and vitamins affect the normal development and function of the body....

Abetalipoproteinemia (ABL) is a rare inherited disorder that affects the body's ability to absorb dietary fat and fat-soluble vitamins. It is caused by a mutation in the gene that codes for the protein apolipoprotein B (ApoB). People with ABL have...

Ablepharon macrostomia syndrome (AMS) is a rare genetic disorder characterized by the absence of eyelids (ablepharon) and a wide mouth (macrostomia). Other features of the disorder may include a cleft lip and/or palate, low-set ears, and a small h...

Ablepharon-Macrostomia Syndrome (AMS) is a rare genetic disorder characterized by the absence of eyelids (ablepharon) and a large mouth (macrostomia). Other features of the disorder may include a wide nasal bridge, low-set ears, and a cleft lip or...

Abnormal number of coronary ostia is a condition in which there are more or fewer than the normal two coronary ostia (the openings of the coronary arteries) present in the heart. This condition can be caused by a congenital defect or by a disease ...

Abnormal origin of right or left pulmonary artery from the aorta is a congenital heart defect in which the pulmonary artery arises from the aorta instead of the pulmonary trunk. This defect can cause a variety of symptoms, including shortness of b...

Medical abortion is a procedure that uses medication to end a pregnancy. A medical abortion doesn't require surgery or anesthesia and can be started either in a medical office or at home with follow-up visits to your doctor. It's safer and most ef...

ABri amyloidosis is a rare, progressive, and fatal neurodegenerative disorder caused by the accumulation of amyloid-beta (Aβ) peptides in the brain. It is characterized by the formation of amyloid plaques in the brain, which can lead to cognitive...

Abruzzo-Erickson syndrome is a rare genetic disorder characterized by intellectual disability, seizures, and facial abnormalities. It is caused by a mutation in the ARX gene, which is responsible for the development of the brain and other organs. ...

Adams-Oliver syndrome (AOS) is an extremely rare inherited disorder characterized by defects of the scalp and abnormalities of the fingers, toes, arms, and/or legs. The physical abnormalities associated with this disorder vary greatly among affect...

Absence deformity of leg-cataract syndrome is a rare genetic disorder characterized by the absence of the lower leg bones, cataracts, and other eye abnormalities. It is caused by a mutation in the gene that codes for the protein filamin A. This di...

Absence of fingerprints-congenital milia syndrome is a rare genetic disorder characterized by the absence of fingerprints and the presence of milia, which are small white cysts on the skin. People with this disorder may also have other skin abnorm...

Absence of the innominate vein is a rare congenital anomaly in which the right brachiocephalic vein (innominate vein) is absent. This anomaly is usually asymptomatic and is usually discovered incidentally during imaging studies. Treatment is usual...