Disease Directory

Apert syndrome is a genetic condition that affects the development of the skull, face, hands, and feet. It is one of the conditions classified under a...

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome is an extremely rare congenital condition that affects the development of the limbs,...

Argentine hemorrhagic fever is an acute viral illness caused by the Junin virus. It starts with symptoms such as fever and general tiredness (malaise)...

Armfield syndrome is a condition that affects intellectual development and physical growth. People with this condition may have intellectual disabilit...

Arnold stickler bourne syndrome is a rare disease. Detailed information about this condition is currently limited in medical literature.

Arts syndrome, also known as lethal ataxia with deafness and optic atrophy, is a rare condition that affects several parts of the body. This condition...

Ascher syndrome is a very rare condition that primarily involves the eyelids and lips. People with this syndrome may experience blepharochalasis, whic...

Information about overview is currently limited for this condition.

Askin tumor is a rare type of tumor that forms in the chest. It is classified as a primitive neuroectodermal tumor, often described as a small round b...

Astley-Kendall dysplasia is a lethal skeletal dysplasia. It is characterized by short limbed dwarfism, which means that people with this condition hav...

Astrakhan spotted fever is an infectious disease found in the Astrakhan region, Chad, and Kosovo. It is caused by an infection with rickettsia conorii...

Atelis syndrome 1 is a rare condition that has been identified in medical literature through its association with the SLF2 gene. Detailed clinical des...

Atelis syndrome 2 is a rare genetic condition that has been linked to the SMC5 gene. Although detailed information about the condition is not availabl...

Atkin-Flaitz syndrome is a rare condition that is inherited in an X-linked pattern. It is characterized by moderate to severe intellectual disability,...

Au-Kline syndrome is a multi-system developmental condition characterized by a range of clinical features including global developmental delay, distin...

Axenfeld anomaly is a rare congenital condition that affects the front part of the eye. It is caused by anterior segment dysgenesis, a developmental a...

Axenfeld-Rieger syndrome (ARS) is a term used to describe a group of genetic disorders that primarily affect the front part of the eye, known as the a...

Axenfeld-Rieger syndrome type 1 is a rare condition that primarily affects the eyes and teeth. It is known for causing abnormalities in the anterior c...

Axenfeld-Rieger syndrome type 2 is a rare genetic condition that is linked to deletions in a specific part of chromosome 13 (region 13q14). This disor...

Axenfeld-Rieger syndrome type 3 is a rare condition that falls under the group of Axenfeld-Rieger syndromes. This type is specifically caused by a mut...