Disease Directory

Aural atresia, congenital is a rare condition that is present at birth and affects the development of the ear. The name of the condition suggests that...

auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome is an extremely rare condition. Because few cases have be...

Auriculocondylar syndrome (ACS) is characterized by distinctive bilateral external ear malformations known as 'question mark' ears, along with signifi...

Auriculocondylar syndrome 1 is a condition that primarily affects craniofacial development, leading to distinctive features involving the mouth, jaw,...

Auriculocondylar syndrome 2 is a developmental condition that primarily affects the bones and soft tissues of the face, ears, and airway. The disorder...

Auriculocondylar syndrome 2B is a congenital condition that affects facial structure and involves neurological as well as developmental manifestations...

Auriculocondylar syndrome 3 is a congenital condition that primarily affects craniofacial development. It is characterized by distinctive ear and jaw...

Auriculocondylar syndrome 4 is a congenital condition primarily affecting the facial structures, particularly the ears and jaw. It is associated with...

Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, a distinctive ear shape with elongated lobes that are att...

Autism, also known as autism spectrum disorder, is characterized by persistent deficits in social interaction and communication, along with restricted...

Autism spectrum disorder (ASD) encompasses a range of developmental disorders characterized by challenges in communication, social interactions, and r...

Autism spectrum disorder-epilepsy-arthrogryposis syndrome, also called SLC35A3-CDG, is a congenital disorder of glycosylation that affects both the ne...

autism spectrum disorder 1 is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited. It is cha...

Autism spectrum disorder 2 is a neurodevelopmental condition characterized by significant challenges in social communication and noticeable restricted...

autism spectrum disorder 3 is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Autism spectrum disorder due to AUTS2 deficiency is a rare genetic condition that primarily affects neurodevelopment, leading to global developmental...

autism-facial port-wine stain syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limite...

autoerythrocyte sensitization syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limite...

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

Autoimmune bullous skin disease is an immune-mediated condition in which the body mistakenly targets components of the skin, leading to the developmen...