Disease Directory

Primrose syndrome is a rare genetic condition that affects many parts of the body. It is characterized by a larger head (macrocephaly), low muscle ton...

Proteus syndrome is a very rare and complex hamartomatous overgrowth disorder marked by progressive enlargement affecting the skeleton, skin, adipose...

Proteus-like syndrome is a rare condition where people share many features with Proteus syndrome but do not fully meet its diagnostic criteria. This m...

Pyle disease is a rare bone dysplasia where the long bones are affected, leading to visible changes in bone structure. People with this condition ofte...

Q fever is a bacterial infection caused by Coxiella burnetii. It is usually spread when people breathe in tiny particles from infected animals or come...

Qazi-Markouizos syndrome is a rare condition that affects muscle tone, skeletal development, and neurological function. It is characterized by non-pro...

Quebec platelet disorder is a rare platelet granule disorder that affects the way platelets function in blood clotting. This condition is known for ca...

Queensland tick typhus is a spotted fever caused by the bacterium Rickettsia australis. This disease is transmitted by tick bites, specifically from t...

Folliculitis decalvans is a rare, chronic, scarring condition of the scalp. It mainly affects middle-aged adults and leads to areas of hair loss that...

RAB18 deficiency is a group of conditions that includes both Warburg Micro Syndrome and Martsolf Syndrome. In Warburg Micro Syndrome, which is the mor...

RAB23-related Carpenter syndrome is a form of Carpenter syndrome that is caused by a mutation in the RAB23 gene. Carpenter syndrome is part of a group...

RAB28-related retinopathy is a rare eye condition that affects the retina, the light-sensitive layer at the back of the eye. It is caused by changes i...

RAD51C-related cancer predisposition is a hereditary condition caused by changes in the RAD51C gene. People with this condition have a higher risk for...

RAD51D-related cancer predisposition is a hereditary condition caused by variations in the RAD51D gene. This condition increases the risk for tumor fo...

RASopathies are developmental syndromes caused by changes or mutations in certain genes. These changes affect the Ras subfamily of proteins, as well a...

RCBTB1-related retinopathy is a rare condition that affects the retina, the light-sensitive tissue at the back of the eye. It is also known by other n...

RD3-related retinopathy is a condition affecting the retina that is linked to changes in the RD3 gene. The retina is the part of the eye that helps pe...

RDH12-related dominant retinopathy is a type of retinopathy that develops later in life. This condition is linked to changes in one copy of the RDH12...

RDH12-related recessive retinopathy is a condition affecting the retina, the light-sensitive tissue at the back of the eye. It is typically severe and...

RDH5-related retinopathy is a form of retinopathy that is linked to genetic changes in the RDH5 gene. This condition is known by several names, includ...