Autosomal recessive spondylometaphyseal dysplasia, Megarbane type is a skeletal disorder that primarily affects the development of the spine and long...

autosomal recessive syndromic cerebellar ataxia is an extremely rare condition. Because few cases have been documented, detailed clinical information...

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

Autosomal semi-dominant severe lipodystrophic laminopathy is characterized by a significant reduction in subcutaneous fat, leading to features such as...

Autosomal systemic lupus erythematosus type 16 is an autoimmune condition that presents with features consistent with systemic lupus erythematosus, su...

Avascular necrosis is a condition characterized by the death of bone tissue due to an interruption in blood supply, most often affecting the ends (epi...

Avascular necrosis of the femoral head, primary, is associated with variants in the COL2A1 gene and follows an autosomal dominant inheritance pattern....

Avascular necrosis of the femoral head, primary, 2 (ANFH2) is associated with variants in the TRPV4 gene. This condition is inherited in an autosomal...

Avian influenza, also known as avian flu or bird flu, is an infectious disease caused by the influenza A virus that primarily affects domestic and wil...

Axenfeld anomaly is a rare congenital ocular defect that primarily affects the anterior segment of the eye by causing an anterior displacement of Schw...

Axenfeld-Rieger syndrome is an ocular condition primarily characterized by abnormal development of the anterior segment of the eye. Recognized subtype...

Axenfeld-Rieger syndrome type 1 is a rare inherited disorder that primarily affects the anterior segment of the eye and dental development. It is caus...

Axenfeld-Rieger syndrome type 2 is a developmental condition that is understood to arise from chromosomal deletions in the region 13q14. It falls with...

Axenfeld-Rieger syndrome type 3 is an ocular condition characterized primarily by developmental anomalies of the anterior segment of the eye. It is de...

Axial mesodermal dysplasia spectrum is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Axial spondylometaphyseal dysplasia is a very rare genetic condition that affects bone growth in the spine, chest, pelvis, and the upper portions of t...

AXIN2-related attenuated familial adenomatous polyposis is a rare condition that has been identified through resources like Orphanet and GARD. It is a...

Axonal neuropathy is a nerve disorder that primarily affects the axon component of peripheral nerves. Recognized subtypes such as giant axonal neuropa...

Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy is characterized by a range of clinical features including demyelinating senso...

Ayme-Gripp syndrome is a multisystem disorder that primarily affects the eyes, ears, musculature, and nervous system. It is caused by pathogenic varia...