Alpha-N-acetylgalactosaminidase deficiency is a very rare inherited (runs in families) disease. It happens when the body does not make enough of one cleaning ...

Mannosidosis is a rare genetic disease. It belongs to a group called lysosomal storage disorders. Lysosomes are tiny recycling centers inside our cells. They ...

Alpha-mannosidosis is a rare, inherited disease. A child is born with it when both parents pass down a changed copy of a gene called MAN2B1. This gene makes an ...

Alpha-mannosidase deficiency—also called alpha-mannosidosis—is a rare inherited disease. It happens when the body does not make enough of an enzyme called ...

Dysostosis is a group of birth conditions that affect how certain bones form and join. The problem starts very early in pregnancy when the baby’s skeleton is ...

Alpha-D-mannosidosis is a rare, inherited, metabolic disease. It happens when the body does not make enough of an enzyme called lysosomal alpha-mannosidase. ...

Alpha-mannosidosis is a rare, inherited metabolic disease. It happens because the body does not make enough of an enzyme called lysosomal alpha-mannosidase. ...

Antiplasmin deficiency is a rare bleeding disorder. In healthy blood, clots form to stop bleeding and then slowly dissolve when healing is done. A protein ...

Alpha-2-plasmin inhibitor deficiency (also written as α2-antiplasmin deficiency) is a rare bleeding disorder. In healthy blood, clots form to stop bleeding and ...

Alpha-thalassemia/mental retardation syndrome (ATR-X syndrome) is a rare, inherited condition that mainly affects boys. It causes intellectual disability, slow ...

Alpha thalassemia–X-linked intellectual disability syndrome, often shortened to ATR-X syndrome, is a rare genetic condition that mostly affects boys. It is ...

Alpha-thalassemia–intellectual disability syndrome linked to chromosome 16—often shortened to ATR-16—is a rare genetic condition caused by losing a piece from ...

Alpha-thalassemia–intellectual disability syndromes (ATR-X syndrome) is a rare genetic condition that mostly affects boys and men. It is caused by changes ...

Alpha thalassemia-intellectual disability syndrome—often shortened to ATR-X syndrome—is a rare genetic condition that mainly affects boys. It combines two core ...

Alpha thalassemia is a group of inherited blood disorders. They happen when the body cannot make enough alpha globin, a protein that helps build hemoglobin. ...

Hemorrhagic diathesis due to antithrombin Pittsburgh is a very rare bleeding disorder caused by a special change (mutation) in the alpha-1 antitrypsin (AAT) ...

Emphysema–cirrhosis due to AAT deficiency is a genetic condition where a person is born with too little working alpha-1 antitrypsin (AAT) protein. AAT is made ...

Emphysema is a lung problem where the tiny air sacs (alveoli) break down and lose their walls. The lungs become loose and over-inflated. Air gets trapped, and ...

Alpha-1 antitrypsin deficiency (AATD) is an inherited condition. Your liver makes too little of a protective protein called alpha-1 antitrypsin (AAT), or it ...

Devriendt-Vandenberghe-Fryns (DVF) syndrome is a very rare genetic condition first described in two brothers. It combines three main features: (1) complete ...