Disease Directory

Oncogenic osteomalacia is a condition where a small tumor causes a weakening of the bones. This happens because the tumor releases a substance called...

Information about overview is currently limited for this condition.

Opitz G/BBB syndrome is a condition that causes several physical differences which are often present at birth. It is marked by malformations of the mi...

Oroya fever is an infection caused by the bacterium Bartonella bacilliformis. It is passed to people through the bite of infected sandflies. This cond...

Osebold-Remondini syndrome is a rare condition that affects the bones. It is characterized by shortened bones in the middle parts of the fingers (brac...

Osgood-Schlatter disease is a condition described as osteochondrosis of the growth plate near the tibial tuberosity. This condition affects the area w...

P5CS deficiency is a rare genetic condition that affects the body’s ability to properly process certain amino acids, specifically proline and ornithin...

PAGOD syndrome is a severe developmental disorder marked by multiple congenital anomalies. People with this condition may have issues with the heart (...

Information about the overview is currently limited for this condition.

PALB2-related cancer predisposition is a hereditary condition caused by changes in the PALB2 gene. This gene change increases the risk of forming tumo...

PANDAS is an extremely rare condition. It refers to Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptoco...

PAPASH syndrome is a rare autoinflammatory condition that is characterized by a chronic-relapsing pattern of inflammation. People with this condition...

PARC syndrome is a rare condition that begins during embryonic development. The syndrome is named for its main features: congenital poikiloderma (skin...

PAX5-related B lymphopenia and autism spectrum disorder is a condition where a deficiency in the PAX5 gene leads to both immune and neurodevelopmental...

PAX6-related ocular dysgenesis is an eye disorder caused by a mutation in the PAX6 gene. The PAX6 gene is very important for proper eye development. W...

PCARE-related retinopathy is an inherited eye condition that affects the retina, the light-sensitive tissue at the back of the eye. This condition is...

PCCA-related propionic acidemia is a form of propionic acidemia caused by variations in the PCCA gene. However, no specific genetic variants have been...

PCCB-related propionic acidemia is a metabolic disorder characterized by the accumulation of propionic acid due to a deficiency in propionyl-CoA carbo...

PCWH syndrome is a condition that combines features of Waardenburg-Shah syndrome with neurological findings. People with this condition may show signs...

PDA1, also known as patent ductus arteriosus, is a rare condition referenced in medical genetics resources. While detailed clinical definitions are cu...