Disease Directory

COG6-congenital disorder of glycosylation, also known as CDG syndrome type IIL, is a rare inherited condition. It is linked to changes in the COG6 gen...

COG7-congenital disorder of glycosylation (COG7-CDG) is a rare genetic condition that affects the body’s process of adding sugar molecules to proteins...

Congenital Disorders of Glycosylation (CDG) are a group of genetic conditions that affect the body's ability to create glycoproteins. In COG8-congenit...

COL1A1-related Ehlers-Danlos syndrome is a type of Ehlers-Danlos syndrome caused by a variant in the COL1A1 gene. This condition can include features...

COL1A2-related Ehlers-Danlos syndrome is a type of Ehlers-Danlos syndrome that occurs because of any variant in the COL1A2 gene. In people with this c...

COL1A2-related osteogenesis imperfecta is a rare genetic condition that affects the strength and quality of bones. This condition is a type of osteoge...

COL2A1-related spondyloepiphyseal dysplasia is a type of skeletal disorder caused by changes in the COL2A1 gene. This condition affects the developmen...

Information about overview is currently limited for this condition.

COVID-19–associated multisystem inflammatory syndrome in adults is a serious inflammatory condition that occurs following infection with SARS-CoV-2. I...

COVID-19–associated multisystem inflammatory syndrome in children is a serious inflammatory condition that arises in some children following infection...

COX deficiency, benign infantile mitochondrial myopathy is a rare disorder that involves a deficiency in cytochrome-c oxidase. This enzyme is importan...

CPOX-related hereditary coproporphyria is a type of porphyria that occurs due to changes in the CPOX gene. This condition shows a range of symptoms de...

CREST syndrome is a subtype of limited cutaneous systemic sclerosis. The name CREST is an acronym that stands for calcinosis, Raynaud's phenomenon, es...

CRX-related retinopathy is a rare eye condition where a change in the CRX gene leads to problems with the retina. The retina is the light-sensitive la...

CTNNA1-related diffuse gastric and lobular breast cancer syndrome is a hereditary condition. It is linked to changes in the CTNNA1 gene that increase...

CTSC-related disorder is a group of conditions caused by changes in the CTSC gene. These disorders include papillon-Lefevre syndrome, which is known f...

CYP1B1-related glaucoma with or without anterior segment dysgenesis is a form of primary congenital glaucoma that is present at birth. It occurs when...

CYP7B1-related disorder of oxysterol accumulation is a rare condition where oxysterols, which are oxidized cholesterol byproducts, build up in the bod...

Caffey disease, also known as cortical congenital hyperostosis or infantile cortical hyperostosis, is a rare bone disorder that causes rapid new bone...

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