Disease Directory

Gaucher disease is a lysosomal storage disorder in which a deficiency of the enzyme beta-glucocerebrosidase leads to the accumulation of fatty substan...

Gaucher disease due to saposin C deficiency is a rare form of Gaucher disease. In this condition, changes in the PSAP gene lead to problems with sapos...

Gaucher disease perinatal lethal is the most severe form of Gaucher disease, manifesting in the fetal or newborn period with life‐threatening multisys...

Gaucher disease type I is a chronic condition characterized by enlargement of organs, bone involvement, and low blood cell counts, without the neurolo...

Gaucher disease type II is the acute neuronopathic form of Gaucher disease, affecting multiple body systems but especially the brainstem and other neu...

Gaucher disease type III is the subacute neurological form of Gaucher disease, characterized by progressive encephalopathy along with systemic manifes...

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome is a rare form of Gaucher disease. It is sometimes called Gaucher disease type 3...

Gemignani syndrome is a rare condition that is also known as spinocerebellar ataxia-amyotrophy-deafness syndrome or spinocerebellar ataxia associated...

German syndrome is a rare autosomal recessive condition that has been described in five cases. People with this condition often show multiple physical...

Gerstmann syndrome is a very rare neurological disorder characterized by a unique combination of difficulties, including problems with math (acalculia...

Gerstmann-Straussler-Scheinker syndrome is a very rare and fatal disorder of the brain. It is a type of spongiform encephalopathy that is usually caus...

Gilbert syndrome is an inherited condition that is usually harmless. It is characterized by higher than normal levels of unconjugated bilirubin in the...

Gillessen-Kaesbach-Nishimura syndrome is a rare genetic condition that is noted to include polycystic kidney disease along with distinct physical char...

Gitelman syndrome is a rare condition that affects kidney function. It is characterized by an imbalance in body salts, leading to low levels of potass...

Information about overview is currently limited for this condition.

Information about overview is currently limited for this condition.

Glanzmann thrombasthenia 1 is a bleeding syndrome where people experience spontaneous bleeding from areas like the skin and mucous membranes. This con...

Glanzmann thrombasthenia 2 is a rare bleeding disorder that affects the ability of platelets to form blood clots. This condition, sometimes called GT2...

Goldberg-Shprintzen syndrome is a rare condition that involves multiple physical differences. This syndrome is marked by problems with the colon known...

Goldmann-Favre syndrome is a rare vitreoretinal dystrophy. It is marked by early onset of night blindness and reduced vision in both eyes. Over time,...