Disease Directory

Roberts-SC phocomelia syndrome is a rare genetic condition that affects how the body develops before birth. It is known for causing differences in lim...

Robertsonian translocation Down syndrome is a chromosomal disorder where part or all of chromosome 21 is attached to another chromosome. This change h...

Robin sequence-oligodactyly syndrome is a rare genetic condition that occurs during embryogenesis. It is characterized by features of Robin sequence s...

Robinow syndrome is a rare genetic condition that primarily affects the development of the limbs, head, face, and external genitalia. People with this...

Robinow-Sorauf syndrome is a rare condition that is recognized by its association with the TWIST1 gene. It is also known by other names including acro...

Roch-Leri mesosomatous lipomatosis is a rare, benign disorder that is inherited in an autosomal dominant manner. It is characterized by the developmen...

Rocky Mountain spotted fever is an infection caused by the bacterium Rickettsia rickettsii. This disease is spread through the bite of an infected tic...

Roifman syndrome is a rare genetic condition that has been recognized by its complex clinical features. It is known to include skeletal abnormalities...

Rombo syndrome is a rare condition that shows several skin and hair changes. It is characterized by features such as vermiculate atrophoderma (a patte...

Rosselli-Gulienetti syndrome is a rare congenital condition that affects the skin, hair, nails, and other parts of the body. It is considered a type o...

Rothmund-Thomson syndrome (RTS) is a genetic disorder that affects the skin and other parts of the body. People with this condition commonly have a di...

Rothmund-Thomson syndrome type 1 is a condition primarily affecting the skin and eyes, characterized by a distinctive facial rash known as poikiloderm...

Rothmund-Thomson syndrome type 2 is a rare genetic condition that is a subtype of Rothmund-Thomson syndrome. People with this condition may develop a...

Rothmund-Thomson syndrome type 3 is a rare condition that is also known by the names 'Rothmund-Thomson syndrome, type 3' and 'short stature with micro...

Rothmund-Thomson syndrome type 4 is a rare condition that has been identified with the OMIM identifier OMIM:620819. It is also known as Rothmund-Thoms...

Rotor syndrome is a benign, inherited liver disorder that leads to a chronic elevation of predominantly conjugated bilirubin in the blood. This condit...

Roussy-Levy syndrome is a rare condition that is referenced in several reputable databases, including OMIM (OMIM:180800), Orphanet (Orphanet:3115), an...

Rowell syndrome is a rare form of lupus erythematosus. It is characterized by the presence of annular skin lesions that appear similar to those seen i...

Rubinstein-Taybi syndrome is a rare condition that affects many parts of the body. People with this condition often have unique facial features, a sma...

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion, also known as 16p13.3 deletion syndrome, is a chromosome abnormality in which a small piece of...