Disease Directory

The disorder of lectin complement activation pathway is defined by a disruption in the immune system’s lectin complement activation, a pathway that pl...

The disorder of lysosomal-related organelles is a condition that affects the function of specialized cellular structures responsible for processing an...

The disorder of magnesium transport is an inherited metabolic condition characterized by a disruption in the normal magnesium ion transport processes....

Disorder of manganese transport is a condition thought to affect how manganese is regulated within the body. Although its precise biological mechanism...

Disorder of melanin metabolism is a condition that affects the body’s ability to properly process melanin, the pigment responsible for skin, hair, and...

Disorder of metabolite absorption and transport is a condition in which the body’s ability to properly absorb and transport key metabolites may be com...

Disorder of methionine catabolism is an inherited metabolic condition characterized by a disruption in the methionine breakdown process. The condition...

Disorder of methylamine metabolism is an inherited metabolic condition characterized by a disruption in the methylamine metabolic process. Although th...

Disorder of mineral absorption and transport is a condition characterized by difficulties in properly absorbing and distributing minerals within the b...

Disorder of multiple glycosylation is a condition that affects the process by which proteins are modified in the body, potentially impacting various o...

Disorder of neutral amino acid transport is an inherited metabolic condition characterized by a disruption in the normal movement of neutral amino aci...

Disorder of peptide and amine metabolism is an inherited metabolic condition that disrupts the normal processing of peptides and amines in the body. A...

Disorder of peroxisomal alpha oxidation is a condition characterized by a defect in the peroxisomal pathway responsible for alpha oxidation of fatty a...

Disorder of peroxisomal beta oxidation is a condition that affects metabolic processes involving peroxisomes, which are cellular structures responsibl...

Disorder of peroxisomal transporter is a condition defined by defects in a single enzyme or protein that disrupts the normal function of peroxisomes,...

Disorder of phenylalanine metabolism is a metabolic condition that affects the body’s ability to break down the amino acid phenylalanine. This process...

The disorder of phospholipids, sphingolipids and fatty acids biosynthesis is a condition that appears to disrupt normal lipid metabolic processes. Alt...

Disorder of plasmalogens biosynthesis is a condition that affects the body’s ability to produce plasmalogens, a specialized type of lipid important fo...

Disorder of polyamine metabolism is an inherited metabolic disease characterized by a disruption in the polyamine metabolic process. As a metabolic co...

Disorder of protein N-glycosylation is a condition that arises from a disruption in the normal process of attaching sugar molecules to proteins, a mod...