Disease Directory

CHIME syndrome is a rare condition that affects several parts of the body, including the eyes, heart, skin, and brain. It is classified as an ectoderm...

CHRNG-associated hypo-akinesia disorder of prenatal onset is a rare condition that arises from changes in both copies of the CHRNG gene. These changes...

CIDEC-related familial partial lipodystrophy is a rare form of lipodystrophy that has been linked to mutations in the CIDEC gene. This condition is re...

CINCA syndrome, also known as Chronic Infantile Neurological, Cutaneous, and Articular syndrome, is a rare inflammatory condition. It primarily affect...

Information about the overview is currently limited for this condition.

CLAPO syndrome is a newly described condition defined by a unique set of features. The condition is characterized by capillary malformation of the low...

CLOVES syndrome is a complex condition characterized by congenital lipomatous overgrowth, mixed vascular malformations, epidermal nevi, and skeletal a...

CNGA1-related retinopathy is an inherited disorder affecting the retina, the light-sensitive tissue at the back of the eye. It is caused by bi-allelic...

CNGA3-related retinopathy is a condition affecting the retina and is typically described as achromatopsia. It is caused by biallelic variants in the C...

CNGB1-related retinopathy is an inherited eye condition that affects the retina and can lead to progressive vision difficulties. The condition is caus...

CNGB3-related retinopathy is a rare eye condition that affects the retina, the light-sensitive tissue at the back of the eye. It occurs due to changes...

COACH syndrome is a Mendelian disease that affects development from infancy. It is mainly characterized by features such as infantile ataxia (problems...

COACH syndrome 1 is a rare genetic condition caused by a variation in the TMEM67 gene. It is known by other names such as cerebellar vermis hypo/aplas...

COACH syndrome 2 is a rare genetic condition that is part of the group of disorders known as COACH syndromes. It is characterized by the presence of c...

COACH syndrome 3 is a rare genetic condition. Although detailed information is currently limited, the condition is recognized in medical databases and...

CODAS syndrome is a rare condition marked by multiple congenital anomalies. It affects several parts of the body including the brain, eyes, teeth, ear...

COFS syndrome is a rare genetic disorder that affects many parts of the body. It belongs to a group of disorders related to DNA repair and is marked b...

COG1-congenital disorder of glycosylation (COG1-CDG) is an extremely rare form of congenital disorder of glycosylation. It has been reported in a few...

COG4-CDG is a very rare genetic condition that affects the way glycoproteins are formed in the body. It is classified under the congenital disorders o...

COG5-congenital disorder of glycosylation (COG5-CDG) is an extremely rare condition that affects glycosylation, a process that helps form important mo...