Disease Index

This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas

amino acid metabolic disorder that involves accumulation of ammonia in the blood

acquired metabolic disease that is characterized by abnormal carbohydrate metabolism

human disease

Human disease

human disease

Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC; see this term) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites

human disease

human disease

human disease

medical condition

human disease

disease

Human disease

type of circulatory shock resulting from inadequate blood flow due to the dysfunction of the ventricles of the heart

heart disease and a myopathy that is characterised by deterioration of the function of the heart muscle

defect in gene encoding a mitochondrial membrane transporter

human disease

autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity

Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites

multiple neoplasia syndrome

human disease

lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria

medical condition

disease