Achondrogenesis type 1A is a rare genetic disorder that affects the development of bones in the body. It is a type of skeletal dysplasia, which is a group of disorders that cause abnormal growth and development of the skeleton. People with this co...

Achondrogenesis type 1B is a rare genetic disorder that affects the development of bones in the body. It is a type of skeletal dysplasia, which is a group of disorders that cause abnormal growth and development of the skeleton. People with this co...

Achondrogenesis type 2 is a rare genetic disorder that affects the development of bones in the body. It is a form of achondrogenesis, a group of disorders that cause abnormal growth of cartilage and bone. People with achondrogenesis type 2 typical...

Achondroplasia is a genetic disorder that affects bone growth and is the most common form of dwarfism. People with achondroplasia have short arms and legs, a large head, and a prominent forehead. Other features may include a flattened bridge of th...

Achondroplasia imaging is a type of imaging used to diagnose achondroplasia, a genetic disorder that affects bone growth. It involves taking X-rays, CT scans, and MRI scans of the bones and joints to look for signs of the disorder. These images ca...

Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the b...

Pompe disease is a rare multisystem genetic disorder that is characterized by absence or deficiency of the lysosomal enzyme alpha-glucosidase (GAA). This enzyme is required to breakdown (metabolize) the complex carbohydrate glycogen and convert it...

Acid Sphingomyelinase Deficiency (ASMD) is a rare genetic disorder that affects the body's ability to break down a type of fat called sphingomyelin. This fat is found in cell membranes and is important for normal cell function. People with ASMD ha...

Acidemia Isovaleric is an inherited disorder caused by a deficiency of the enzyme isovaleryl-CoA dehydrogenase. This enzyme is responsible for breaking down the amino acid leucine, which is found in many foods. When this enzyme is deficient, leuci...

A rare genetic condition where the body can't process proteins adequately. More specifically, there are insufficient levels of the enzyme needed to break down an amino acid called leucine. This results in a build up of isovaleric acid which can harm ...

Acidemia, methylmalonic is an inherited disorder caused by a deficiency of the enzyme methylmalonyl-CoA mutase. This enzyme is responsible for breaking down certain proteins and fats in the body. Without it, these proteins and fats build up in the...

Acitretin/etretinate embryopathy is a rare condition caused by the use of acitretin or etretinate during pregnancy. These medications are used to treat severe psoriasis and other skin conditions. Exposure to these medications during pregnancy can ...

Acne is a skin condition that occurs when your hair follicles become plugged with oil and dead skin cells. It often causes whiteheads, blackheads or pimples, and usually appears on the face, forehead, chest, upper back and shoulders. Acne is most ...

Acne (acne vulgaris, common acne) is a disease of the hair follicles of the face, chest, and back that affects almost all teenagers during puberty -- the only exception being members of a few primitive Neolithic tribes living in isolatio...

Acoustic neuroma is a noncancerous (benign) tumor that develops on the main nerve leading from the inner ear to the brain. It is also known as a vestibular schwannoma. The tumor grows slowly and can press on the hearing and balance nerves, causing...

Acquired aneurysmal subarachnoid hemorrhage (aSAH) is a type of stroke caused by bleeding in the space between the brain and the thin tissues that cover it. It is usually caused by a ruptured aneurysm, a weak or thin spot in a blood vessel in the ...

Acquired angioedema type 1 (AAT1) is a rare, inherited disorder that causes recurrent episodes of swelling in the face, tongue, and/or throat. It is caused by a deficiency of the C1 esterase inhibitor protein, which is responsible for controlling ...