Disease Directory

Fryns syndrome is a condition that affects many parts of the body. It is a multiple congenital anomaly syndrome, which means that people with this con...

Fuchs heterochromic iridocyclitis (FHI) is a rare eye condition that affects a small number of uveitis cases. It is known for causing differences in i...

Fuchs' endothelial dystrophy, also known as Fuchs endothelial corneal dystrophy (FECD), is a condition that affects the back layer of the cornea. In p...

Fuhrmann syndrome is a rare condition that affects the bones in the legs and the formation of fingers and toes. It is mainly characterized by bowing o...

Fukuda-Miyanomae-Nakata syndrome is a rare condition that has been known by several names, such as Cerebromuscular dystrophy, Fukuyama type, and varia...

G6PD deficiency is an X-linked genetic condition that affects the activity of the enzyme glucose-6-phosphate dehydrogenase. This enzyme plays an impor...

GABA aminotransaminase deficiency is an extremely rare disorder of GABA metabolism. It is characterized by a severe neonatal-infantile epileptic encep...

GAPO syndrome is a rare condition that affects several parts of the body. It is known as a multiple congenital anomalies (MCA) syndrome that involves...

GATA1-Related X-Linked Cytopenia is a rare condition that affects blood cells. It is characterized by low red blood cell counts (anemia) and/or low pl...

GCGR-related hyperglucagonemia is a rare condition affecting the pancreas. It is caused by mutations in the GCGR gene and is characterized by an overg...

GJC2-related late-onset primary lymphedema is a rare genetic condition that mainly affects the lymphatic system. People with this condition develop ly...

GLUT1 deficiency syndrome is a condition that affects the brain, known to cause seizures and other neurological issues. It occurs because of impaired...

GM1 gangliosidosis is a lysosomal storage disorder characterized by deficient beta-galactosidase activity that leads to the accumulation of gangliosid...

GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis, affecting multiple body systems including the central nervous system and...

GM1 gangliosidosis type 2 is a lysosomal storage disorder that affects multiple organ systems, most the brain, skeleton, and liver. It results from pa...

GM1 gangliosidosis type 3 is a chronic, mild form of GM1 gangliosidosis that primarily affects the nervous system, especially the cerebellum, and the...

GM2 gangliosidosis is a group of recessively inherited diseases characterized by the accumulation of GM2 ganglioside in neuronal cells due to mutation...

GM3 synthase deficiency is a rare condition that affects brain development and causes recurrent seizures (epilepsy). In the first few weeks of life, i...

GMS syndrome is an extremely rare condition that has been reported in one family so far. It is characterized by a combination of goniodysgenesis (an a...

Information about overview is currently limited for this condition.