Disease Directory

Ataxia-telangiectasia-like disorder 1 is a condition primarily affecting coordination and balance, reflecting abnormalities in the cerebellum and rela...

Ataxia-telangiectasia-like disorder 2 is a very rare inherited condition that primarily affects neurological development and multiple body systems. It...

Atelencephaly is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Atelosteogenesis type I is a severe, multi-system skeletal dysplasia that disrupts normal bone and cartilage development, resulting in profound short-...

Atelosteogenesis type II is a severe congenital bone dysplasia that profoundly affects skeletal development, leading to characteristic limb shortening...

Atelosteogenesis type III is a rare skeletal dysplasia that mainly causes shortened limbs, unusual facial features, and abnormal bone growth seen on r...

Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is a rare and severe circulatory system disorder that affects multiple organ systems i...

Athyreosis is an extremely rare condition characterized by the complete absence of thyroid tissue, leading to primary congenital hypothyroidism. Becau...

Atopic keratoconjunctivitis is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Atransferrinemia is a very rare hematologic condition that results from a deficiency of transferrin, a protein crucial for the transport of iron in th...

Atresia of external auditory canal and conductive deafness is an extremely rare condition. Because few cases have been documented, detailed clinical i...

Atresia of the small intestine is a birth defect that affects the gastrointestinal system. It occurs when a segment of the intestine does not develop...

Atresia of the urethra is a rare congenital condition characterized by a blockage in the lower urinary tract, specifically affecting the urethra. This...

Atrial conduction disease is a cardiac condition in which the electrical signals in the atrium are disrupted, potentially compromising the heart's pum...

Atrial fibrillation, familial, 1 is characterized by an autosomal dominant inheritance pattern, suggesting that a single copy of the variant can lead...

Familial atrial fibrillation, type 10, is a heart rhythm disorder that affects the way the heart’s electrical system controls its beating. This condit...

Atrial fibrillation, familial, 11 is a cardiac rhythm disorder characterized by irregular heartbeat caused by a mutation in the GJA5 gene. This geneti...

Atrial fibrillation, familial, 12 is a hereditary heart rhythm disorder characterized primarily by episodes of paroxysmal atrial fibrillation. This co...

Atrial fibrillation, familial, 13 is a cardiac condition characterized by abnormal heart rhythm that occurs in a familial setting. This condition is c...

Atrial fibrillation, familial, 14 is an inherited heart rhythm disorder that affects the electrical activity of the atria. This condition is caused by...