Arthrogryposis multiplex congenita 5 is a multisystem condition that primarily affects the musculoskeletal and neurological systems. It is linked to p...

Arthrogryposis multiplex congenita 6 is a congenital condition primarily affecting muscle function, with multiple joint contractures and impaired feta...

Arthrogryposis multiplex congenita 7, X-linked is associated with variants in the THOC2 gene. However, the inheritance pattern for this condition has...

Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare condition that primarily affects joint mobility and facial structure....

Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome, also called distal arthrogryposis type 5 (DA5), is a developmental condition t...

Arthrogryposis, renal dysfunction, and cholestasis 1 is a multisystem condition that primarily affects the liver, kidneys, and musculoskeletal system....

Arthrogryposis, renal dysfunction, and cholestasis 2 is a multi-system condition that affects the liver, kidneys, and musculoskeletal system. The cond...

Arthrogryposis-renal dysfunction-cholestasis syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical inform...

Arthrogryposis-severe scoliosis syndrome, also known as distal arthrogryposis type 4, is an inherited developmental defect affecting the limbs and the...

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

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...

ASAH1-related sphingolipidosis is a spectrum of disorders that affect multiple organ systems and include recognized subtypes such as spinal muscular a...

Asbestosis is a lung disorder caused by inhaling tiny asbestos fibers. When these fibers are breathed in, they can lead to the scarring (fibrosis) of...

Ascending colon neuroendocrine tumor G1 is an extremely rare condition. Because few cases have been documented, detailed clinical information is limit...

Ascher syndrome is a very rare condition characterized by the combination of episodic eyelid swelling (blepharochalasis), a double upper lip resulting...

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...

Aspartylglucosaminuria (AGU) is a lysosomal storage condition in the oligosaccharidosis group that affects multiple body systems, most noticeably the...

Aspergillosis is an infection caused by the Aspergillus fungus that can manifest in several forms, including allergic bronchopulmonary aspergillosis,...

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

Asphyxiating thoracic dystrophy 1 is a skeletal disorder that primarily affects the development of the chest, leading to a narrow thoracic cavity whic...