Disease Directory

Disorder of carbohydrate transmembrane transport and absorption is a condition that affects the body’s ability to properly move and absorb carbohydrat...

Disorder of carnitine cycle and carnitine transport is a metabolic condition that affects how the body processes carnitine, a molecule essential for e...

Disorder of catecholamine synthesis is a condition that affects the body’s ability to produce important signaling molecules such as dopamine, norepine...

Disorder of copper metabolism is an inherited metabolic disease characterized by a disruption in the normal balance of copper within cells. This imbal...

Disorder of defective peroxisomal and mitochondrial fission is a condition characterized by disruption in the normal division of peroxisomes and mitoc...

Disorder of defective peroxisome oxidative status is a condition characterized by a defect in peroxisomal oxidation, which plays a critical role in ce...

Disorder of development or morphogenesis describes conditions that disrupt the normal formation of an anatomical structure. These disruptions can occu...

Disorder of fatty acid and ketone body metabolism is a metabolic condition affecting how the body processes fatty acids and produces ketone bodies. Al...

The disorder of fatty acid oxidation and ketogenesis is a metabolic condition that disrupts the body’s ability to break down fatty acids and produce k...

Disorder of folate metabolism and transport is a condition that affects the body’s ability to process folate, an essential nutrient, although detailed...

Disorder of fructose metabolism is a condition affecting the way the body processes fructose, a type of sugar found in many foods. Although detailed i...

Disorder of fucoglycosan synthesis is a condition that appears to affect metabolic pathways involved in the synthesis of fucoglycosan. Currently, ther...

Disorder of galactose and fructose metabolism is an inherited condition that disrupts the normal processing of these sugars within the body. The condi...

Disorder of galactose metabolism is a condition affecting the body’s ability to properly process the sugar galactose, an important component of dietar...

Disorder of gluconeogenesis is an inherited metabolic condition that disrupts the body’s ability to produce glucose through the normal biochemical pat...

Disorder of glutamine metabolism is a condition affecting the body’s ability to properly process glutamine, an important amino acid involved in multip...

Disorder of glycogen metabolism encompasses a group of inherited metabolic disorders characterized by defects in glycogen synthesis or degradation. Th...

Disorder of glycolysis is a condition that affects the metabolic pathway responsible for converting glucose into energy. Currently, the precise biolog...

Disorder of glyoxylate metabolism is a condition affecting metabolic pathways involved in the processing of glyoxylate, an important intermediate in m...

The disorder of iron metabolism and transport is a condition affecting the body’s ability to properly manage iron levels, which is essential for numer...