Disease Directory

Fanconi anemia, complementation group 10 is a complex inherited condition that affects multiple organ systems with a range of congenital anomalies and...

Farmer's lung disease is a form of hypersensitivity pneumonitis that affects the lungs as a result of repeated exposure to organic dust such as hay, m...

Fasciolopsiasis is a small bowel infection caused by the parasite Fasciolopsis buski that is endemic in the Far East and Southeast Asia. It is typical...

Fatal familial insomnia (FFI) is a very rare prion disease characterized by a subacute onset of sleep disturbance, autonomic dysfunction, and motor is...

Fatal infantile encephalocardiomyopathy is a very rare mitochondrial disorder that predominantly affects the heart and brain, resulting in rapidly pro...

Fatal infantile hypertonic myofibrillar myopathy is a severe muscle disorder that typically presents in infancy. This condition is linked to pathogeni...

Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 (sometimes abbreviated COXPD3) is a severe disorder that affects t...

Fatal multiple mitochondrial dysfunctions syndrome is a severe disorder of energy metabolism caused by defects in mitochondrial 4Fe-4S protein assembl...

Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare neurodegenerative condition that falls under the category of brain iron accu...

Fatty acyl-CoA reductase 1 deficiency is a peroxisomal disorder characterized by a marked loss of FAR1 enzyme function due to homozygous or compound h...

Fatty acyl-CoA reductase defects refer to disorders of plasmalogen biosynthesis caused by mutations in the FAR1 gene. This condition affects the bioch...

Faucial diphtheria is an infection of the throat area (fauces) caused by the bacterium Corynebacterium diphtheriae. It is characterized by the formati...

Favism is a condition linked to an enzyme deficiency that compromises the red blood cells’ ability to manage oxidative stress, leading to episodes of...

Febrile infection-related epilepsy syndrome is a rare and potentially fatal epileptic encephalopathy that typically follows a nonspecific febrile illn...

Febrile seizures, familial, 8 is a form of childhood absence epilepsy that encompasses a spectrum of seizure disorders ranging from early-onset isolat...