Disease Directory

Autosomal recessive spinocerebellar ataxia 18 is a slowly progressive neurological condition that primarily affects the cerebellum, the part of the br...

Autosomal recessive spinocerebellar ataxia 2 is a congenital, non-progressive disorder that primarily affects the cerebellum, leading to challenges wi...

Autosomal recessive spinocerebellar ataxia 20 (often abbreviated SCAR20) is a neurogenetic condition that primarily affects how the brain coordinates...

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is a childhood-to-adult onset neurological disorder that primarily affects the cerebellum, the pa...

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

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 infection caused by the influenza A virus that primarily affects domestic and wild birds....

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...

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

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

Azygos continuation of the inferior vena cava is an extremely rare condition. Because few cases have been documented, detailed clinical information is...

Babesiosis is a parasitic infection caused by microscopic organisms that invade red blood cells and are primarily transmitted through tick bites. Most...