Disease Directory

Buschke-Ollendorff syndrome is a benign condition that is known for the presence of small, spotted areas on the bones, referred to as osteopoikilosis,...

Böök syndrome, also known as book syndrome or PHC syndrome, is a rare condition that affects the development of certain body tissues. It is classified...

C syndrome is a rare condition that affects many parts of the body. It is known for causing an abnormal head shape called trigonocephaly due to the ea...

C1 inhibitor deficiency is a rare condition that is also known by other names such as Quincke oedema and complement component 4, partial deficiency OF...

C1q deficiency is a rare condition that affects the immune system. In people with this condition, the C1q protein, which plays a key role in the compl...

C1Q deficiency 1 is a rare condition documented in the OMIM database (OMIM:613652). It is associated with the C1QA gene, which suggests that the immun...

Information about overview is currently limited for this condition.

C1Q deficiency 3 is a rare condition with limited detailed public information. Current sources indicate that it is linked to changes in the C1QC gene....

C1q nephropathy is a kidney disease where a large amount of protein is lost in the urine. This protein loss is a result of damage to the kidney's filt...

C3 glomerulonephritis is a rare type of kidney disease that involves inflammation in the glomeruli, the tiny filtering units in the kidneys. It is cha...

CACNA1A-related complex neurodevelopmental disorder is a progressive condition that affects brain development. It is caused by changes in the CACNA1A...

CACNA1F-related retinopathy is a condition that affects the retina, the part of the eye that detects light and sends signals to the brain. This condit...

CACNA2D4-related retinopathy is a rare condition that affects the retina. This condition is caused by changes in the CACNA2D4 gene, which are responsi...

CADDS is a rare genetic neurometabolic disease that affects many parts of the body. It is characterized by issues that begin before birth, including s...

Information about overview is currently limited for this condition.

CAMOS syndrome is a rare condition that has been reported in a large Lebanese family. It is characterized by a non-progressive congenital ataxia, seve...

CANOMAD syndrome is a rare chronic immune-mediated demyelinating polyneuropathy. The term CANOMAD stands for Chronic Ataxic Neuropathy, Ophthalmoplegi...

CAPN5-related vitreoretinopathy is a rare genetic condition that primarily affects the eye, particularly the vitreous and retina. The condition is inh...

CARASIL syndrome is a rare hereditary small vessel disease of the brain. It is characterized by early-onset difficulties with walking, premature hair...

CBL-related disorder is a genetic condition caused by changes in the CBL gene. This gene is an important part of the RAS-MAPK pathway, which helps con...