Disease Directory

OPA1-related optic atrophy with or without extraocular features is a mitochondrial condition caused by variants in the OPA1 gene. These gene changes,...

OPTN-related open angle glaucoma is a type of open angle glaucoma that is caused by a mutation in the OPTN gene. This condition falls under the broade...

OSLAM syndrome is a rare condition that includes the occurrence of osteosarcoma (a type of bone cancer), characteristic limb anomalies, and blood cell...

Ochoa syndrome is a condition primarily affecting the urinary tract and facial expression, characterized by severe voiding dysfunction coupled with a...

Ogden syndrome is a rare genetic disorder that has features of premature aging and developmental challenges. People with this condition experience pos...

Oguchi disease is a rare inherited retinal disorder. It is characterized by congenital stationary night blindness, which means that people with this c...

Oguchi disease-1 is a rare, inherited eye condition that is a form of congenital stationary night blindness. This condition is specifically caused by...

Oguchi disease-2 is a rare eye condition that is caused by a mutation in the GRK1 gene. It is one form of Oguchi disease, a group of conditions that a...

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

Okihiro syndrome due to 20q13 microdeletion is a rare condition that has been described under several names, including Duane-radial ray syndrome due t...

Okihiro syndrome due to a point mutation, also known as Duane‐radial ray syndrome due to a point mutation, is a rare condition. Detailed information a...

Okur-Chung neurodevelopmental syndrome is a condition that primarily affects neurological and developmental functions. It is associated with pathogeni...

Oliver syndrome is a very rare condition that affects people in several ways. It is primarily characterized by an intellectual deficit, the presence o...

Ollier disease is a rare primary bone dysplasia disorder. It is characterized by the development of multiple enchondromas, which are benign cartilage...

Olmsted syndrome is a hereditary condition that affects the skin, particularly the palms of the hands and the soles of the feet. It is characterized b...

Olmsted syndrome 1 is a rare condition caused by a variation in the TRPV3 gene. This genetic change affects the skin, leading to features that are gen...

Olmsted syndrome 2 is a rare skin disorder characterized by marked thickening of the skin and abnormal keratinization. This condition affects primaril...

Olmsted syndrome, X-linked is a condition that primarily affects the skin, especially the palms and soles, and is characterized by keratoderma and per...

Omenn syndrome is a rare inflammatory condition associated with severe combined immunodeficiency (SCID). It is characterized by widespread skin rednes...

Omsk hemorrhagic fever is a rare zoonotic disease caused by the Omsk hemorrhagic fever virus. It is known to affect people through animal reservoirs,...