Disease Directory

Acrodysostosis 1 with or without hormone resistance is a rare skeletal disorder that affects bone growth. It is known as an autosomal dominant conditi...

Acromicric dysplasia is a rare bone dysplasia. It is mainly characterized by short stature, short hands and feet, and mild facial dysmorphism. People...

Acro-oto-ocular syndrome is a very rare condition that affects multiple parts of the body. It is characterized by pseudopapilledema, where the optic d...

Acropectorovertebral dysplasia (ACRPV), also known as F syndrome, is a rare genetic condition that affects the development of bones, particularly in t...

Adams-Oliver Syndrome (AOS) is a rare genetic condition that is mainly known for causing early life abnormalities in the limbs and the scalp. People w...

Adams-Oliver syndrome 1 is a rare genetic condition caused by a mutation in the ARHGAP31 gene. This condition is recognized by its association with de...

Adams-Oliver syndrome 2 is a rare genetic condition caused by a mutation in the DOCK6 gene. It falls under the broader group of Adams-Oliver syndrome...

Adams-Oliver syndrome 3 is a condition that occurs due to a mutation in the RBPJ gene, which is known to play a role in various body functions. This g...

Adams-Oliver syndrome 4 is a rare condition that is caused by a mutation in the EOGT gene. This condition is one of the types of Adams-Oliver syndrome...

Adams-Oliver syndrome 5 is a rare genetic condition caused by a mutation in the NOTCH1 gene. This condition is one type of Adams-Oliver syndrome, and...

Adams-Oliver syndrome 6 is a rare genetic condition caused by a mutation in the DLL4 gene. This form of Adams-Oliver syndrome is defined by its geneti...

African histoplasmosis is a disease caused by an infection with the fungus Histoplasma capsulatum var. duboisii. This condition is defined by this spe...

African iron overload is a condition described primarily in sub-Saharan African populations and is characterized by an excessive accumulation of iron...

African tick-bite fever is a rare disease. Detailed information about this condition is currently limited in medical literature.

Aicardi syndrome is a rare neurodevelopmental disorder most often seen in females. It is defined by a characteristic triad that includes partial or co...

Aicardi-Goutieres syndrome (AGS) is an inherited subacute encephalopathy that primarily affects the brain, characterized by basal ganglia calcificatio...

Aicardi-Goutieres syndrome 1 is a severe neuroinflammatory disorder that primarily affects the brain and other organ systems. It is caused by mutation...

Aicardi-Goutieres syndrome 2 is a rare form of Aicardi-Goutieres syndrome that is caused by a mutation in the RNASEH2B gene. This condition is one of...

Aicardi-Goutieres syndrome 3 is a rare genetic disorder caused by a mutation in the RNASEH2C gene. It is one of the forms of Aicardi-Goutieres syndrom...

Aicardi-Goutieres syndrome 4 is a rare condition that occurs due to a mutation in the RNASEH2A gene. This condition is part of a group of disorders kn...