Disease Directory

Knobloch syndrome 2 is a rare genetic condition with limited information available at this time. It has been associated with changes in the PAK2 gene,...

Kocher-debre-Semelaigne syndrome is a rare disease. Detailed information about this condition is currently limited in medical literature.

Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch. It occurs when a small pouch, called a diverticulum, forms at the beginning...

Koolen-de Vries syndrome is a multisystem neurodevelopmental condition characterized by distinctive facial features, low muscle tone, and a characteri...

Information about overview is currently limited for this condition.

Information about overview is currently limited for this condition.

Kostmann syndrome is a rare condition that affects the body’s ability to produce mature neutrophils, a type of white blood cell. People with this cond...

Kotzot-Richter syndrome is a rare condition that is known by several names including albinism with immune and hematologic defects and oculocutaneous a...

Kousseff syndrome is a rare condition that is characterized by a combination of heart defects, a form of spinal defect known as myelomeningocele, and...

Kozlowski Ouvrier syndrome is a rare disease. Detailed information about this condition is currently limited in medical literature.

Kozlowski Warren Fisher syndrome is a rare disease. Detailed information about this condition is currently limited in medical literature.

Krabbe disease is a lysosomal disorder that primarily affects the white matter of both the central and peripheral nervous systems. It is caused by mut...

Krabbe disease due to saposin A deficiency is a severe neurological condition marked by progressive deterioration of the central nervous system. It is...

Krukenberg carcinoma is a type of cancer found in the ovary that occurs when cancer cells spread from another part of the body. This condition is defi...

Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder that usually affects young individuals. It is characterized by signs of juveni...

Kummell disease is a rare condition that affects the vertebral bodies, most often in the thoracic spine. It occurs weeks to months after a minor traum...

Kunjin virus infectous disease, also known as Kunjin encephalitis, is a form of West Nile encephalitis. It is caused by the Kunjin virus, a subtype of...

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

Kyasanur forest disease (KFD) is a rare illness caused by the KFD virus. It is an arboviral disease, which means it is spread by insects. People with...

L-2-hydroxyglutaric aciduria is a primarily neurological condition characterized by the accumulation of L-2-hydroxyglutaric acid due to pathogenic var...