Disease Directory

FGFR1-related Pfeiffer syndrome is a type of Pfeiffer syndrome that is caused by a mutation in the FGFR1 gene. This condition falls under the umbrella...

FGFR2-related Pfeiffer syndrome is a rare condition that is defined by a mutation in the FGFR2 gene. This gene plays an important role in bone develop...

FGFR3-related chondrodysplasia is a rare condition that is identified by its association with the FGFR3 terminology. Information about the features, d...

FHL1-related myopathy is a group of muscle disorders that includes conditions such as Emery-Dreifuss muscular dystrophy (EDMD), reducing body myopathy...

FLNB-associated autosomal dominant filamin related bone disorder is a condition caused by a variation in the FLNB gene. It is inherited in an autosoma...

FLOTCH syndrome is a rare cutaneous disorder characterized by total leukonychia and the recurrent development of pilar cysts. Some individuals may als...

FLVCR1-related retinopathy with or without ataxia is a disorder that primarily affects vision and coordination. Most patients experience retinopathy,...

FOXC1-related anterior segment dysgenesis is a condition affecting the front part of the eye. It is caused by a mutation in the FOXC1 gene. People wit...

FOXG1 disorder is a neurodevelopmental condition that primarily affects brain growth and function, leading to significant cognitive and motor challeng...

FRAXD syndrome is a rare disease. Detailed information about this condition is currently limited in medical literature.

FRAXE intellectual disability is a form of nonsyndromic X-linked intellectual disability (NS-XLMR) that is characterized by a mild intellectual defici...

FRAXF syndrome is a rare condition that was first identified in a family where several members had developmental delay. The initial report noted an ex...

FZD4-related exudative vitreoretinopathy is a condition that affects the retina in the eye. It is defined as any exudative vitreoretinopathy that occu...

Fabry disease is a progressive, multisystemic lysosomal storage disorder that affects several organ systems including the kidneys, heart, skin, and ne...

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia, leading to bone marrow failure and a predisposition...

Fanconi anemia complementation group A is an inherited disorder that primarily affects blood and other body systems, often manifesting in childhood. I...

Fanconi anemia complementation group B is a rare inherited condition caused by mutations in the FANCB gene. This gene is responsible for producing an...

Fanconi anemia complementation group C is a rare genetic condition caused by mutations in the FANCC gene. This condition is part of the group of disor...

Fanconi anemia complementation group D1 is a rare inherited syndrome that increases the risk of cancer. It is caused by having two faulty copies of th...

Fanconi anemia complementation group D2 is a rare genetic disorder caused by mutations in the FANCD2 gene. This gene helps repair DNA double-strand br...