Disease Directory

RECON progeroid syndrome is a rare genetic disorder that is not yet fully described in the medical literature. The term 'progeroid' refers to features...

REEP6-related retinopathy is a condition that affects the retina, which is the light-sensitive tissue at the back of the eye. This condition is caused...

RELA fusion-positive ependymoma is recognized as a rare type of brain tumor where a specific change in the genetic material, called a RELA fusion, is...

RFT1-CDG is a rare condition that affects the process of glycosylation, where sugars are added to proteins. This condition primarily causes problems w...

RHO-related retinopathy is a condition of the eye that affects the retina. This condition is caused by a change (variant) in the RHO gene which plays...

RHYNS syndrome is a rare disorder that includes problems with the eyes, hormone production, kidneys, and bones. It is known for the presence of retini...

RIDDLE syndrome is a rare genetic disorder that affects many parts of the body. It is characterized by increased sensitivity to radiation, which means...

RIN2 syndrome is a very rare inherited connective tissue disorder. It is characterized by features such as an abnormally large head (macrocephaly), sp...

RLBP1-related retinopathy is a rare eye condition that affects the retina. It is caused by genetic changes in both copies of the RLBP1 gene. Many peop...

RNASEH2A-related type 1 interferonopathy is a condition caused by a change in the RNASEH2A gene. This change disrupts the normal regulation of the bod...

RNASEH2B-related type 1 interferonopathy is a rare condition caused by a change in the RNASEH2B gene. This gene change is one of several that can lead...

RNASEH2C-related type 1 interferonopathy is a condition that belongs to a group of disorders known as type 1 interferonopathies. This group of disorde...

RNU4ATAC spectrum disorder is a rare condition that affects the growth and development of people. It is known for causing slower growth, a smaller hea...

RNU7-1-related type 1 interferonopathy is a condition that falls under a group of disorders known as type 1 interferonopathies. It is caused by variat...

RP1-related dominant retinopathy is an inherited eye condition that affects the retina, which is the light-sensitive tissue at the back of the eye. Th...

RP1-related recessive retinopathy is a condition that affects the retina, the light-sensitive area at the back of the eye. According to the available...

RP2-related retinopathy is an eye condition that affects the retina, the light-sensitive layer at the back of the eye. It is caused by changes in the...

RPE65-related dominant retinopathy is a rare retinal condition caused by a change in one copy of the RPE65 gene that increases its function. This cond...

RPE65-related recessive retinopathy is a type of retinopathy that affects the vision. It can include conditions known as retinitis pigmentosa and Lebe...

RPGR-related retinopathy is a rare eye condition that affects the retina, the light-sensitive tissue at the back of the eye. It is caused by a variant...