Acquired epidermolysis bullosa (EBA) is a rare autoimmune skin disease. “Autoimmune” means your immune system accidentally attacks part of your own body. In ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Acquired C1 inhibitor deficiency is a problem of the body’s natural “brakes” for swelling. The C1 inhibitor (often written as C1-INH) is a protein in your ...
Bradykinin-induced angioedema is sudden, deep swelling of the skin or the lining of the mouth, throat, gut, or genitals that happens because the body has too ...
Agranulocytosis means the number of neutrophils (the main germ-fighting white blood cells) in your blood becomes extremely low. Doctors usually define it as an ...
Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies is a rare condition that starts in adulthood. In this condition, the body makes ...
Acquired adult-onset immunodeficiency means a person who was healthy as a child now develops a weak immune system later in life. “Acquired” means it happens ...
Pyramidal molar–glaucoma–upper abnormal lip syndrome is an ultra-rare, inherited condition that affects teeth, the eyes, and the upper lip. It is also called ...
Ackerman fused molar root syndrome (often called Ackerman syndrome) is a very rare, inherited condition in which the back teeth (molars) develop unusual root ...
Ackerman syndrome most commonly refers to an extremely rare, inherited developmental (congenital) condition that affects the teeth, lips/philtrum (the groove ...
Achromatopsia Type 3 is a rare eye condition that you are born with. It happens because of changes (mutations) in a gene called CNGB3. This gene tells the cone ...
Chondrodystrophia (often called chondrodystrophy) is not one single disease. It is a group of rare conditions where the cartilage in a growing child does not ...
Achondroplasia is a genetic bone growth condition. It mainly affects the long bones of the arms and legs. The word means “without cartilage growth,” but the ...
Achondrogenesis is a very rare genetic bone growth disorder. It starts before birth. In this condition, the baby’s skeleton does not form normally. The bones ...
Acheiropody (also called acheiropodia or Horn-Kolb syndrome) is a very rare genetic condition present from birth in which a baby is born without formed hands ...
Congenital absence of the hand means a baby is born without a hand. It happens during early pregnancy when the limb does not form fully. The rest of the arm ...
Acheiria means a person is born without one hand (unilateral) or both hands (bilateral). It is a type of congenital limb reduction where the hand does not form ...
Achalasia–microcephaly is an extremely rare, likely inherited condition in which a child has achalasia (the food pipe does not relax and move food down ...
Achalasia–microcephaly syndrome (AMS) is an extremely rare genetic disorder in which a child has both achalasia (the food pipe does not relax and push food ...
Hypoceruloplasminemia means your blood has less ceruloplasmin than normal. Ceruloplasmin is a copper-carrying enzyme made mainly in the liver. Its most ...
Hereditary ceruloplasmin deficiency is a rare genetic disease. It is passed down in families. A small change in a single gene stops the body from making a ...
