Disease Directory

atypical hemolytic-uremic syndrome with DGKE deficiency is an extremely rare condition. Because few cases have been documented, detailed clinical info...

atypical hemolytic-uremic syndrome with H factor anomaly is an extremely rare condition. Because few cases have been documented, detailed clinical inf...

Atypical hemolytic-uremic syndrome with I factor anomaly is characterized by an autosomal dominant inheritance pattern. This condition is associated w...

Atypical hemolytic-uremic syndrome (aHUS) with MCP/CD46 anomaly is a rare condition characterized by hemolytic-uremic syndrome, acute kidney injury, a...

Information about overview is currently limited for this condition.

Atypical hemolytic-uremic syndrome (aHUS) with thrombomodulin anomaly is characterized by hemolytic-uremic syndrome, which is present in all affected...

atypical hypotonia-cystinuria syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limite...

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

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

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

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

atypical pantothenate kinase-associated neurodegeneration is an extremely rare condition. Because few cases have been documented, detailed clinical in...

Atypical progressive supranuclear palsy syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information...

Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant tumor of the central nervous system that occurs almost exclusively in children. This agg...

Audiogenic seizures is a rare neurologic condition in which seizures are triggered by sound, such as sudden noises, music, or even voices. The conditi...

Auditory neuropathy is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited. It is characteri...

Auditory neuropathy, autosomal dominant 2 is associated with variants in the ATP11A gene, which is known to play a role in auditory function. This con...

Auditory neuropathy, autosomal dominant 3 is associated with variants in the TMEM43 gene, which is known to play a role in auditory function. This con...

Auditory neuropathy-optic atrophy syndrome is a very rare inherited condition in which changes in the FDXR gene damage the mitochondria, the parts of...

Auditory system disorder is a condition that affects the structures involved in hearing and sound processing. The underlying causes remain under inves...