Disease Directory

Information about the overview is currently limited for this condition. CCDC115-CDG, also known as CDG syndrome type IIo or CDG-IIo, is a rare disorde...

CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome is a very rare condition. Information about its sp...

CD4+/CD56+ hematodermic neoplasm, also known as blastic plasmacytoid dendritic cell neoplasm (BPDCN), is an aggressive hematologic malignancy characte...

CDH1-related diffuse gastric and lobular breast cancer syndrome is a genetic condition that increases the risk of certain types of cancers. It is know...

CDHR1-related retinopathy is a rare eye condition caused by changes in the CDHR1 gene. It includes disorders that have been diagnosed as cone-rod dyst...

CDKL5 disorder is a neurodevelopmental condition that typically presents in early childhood. Although it is known to result from a mutation in a singl...

CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome (also known as CAIN) is a rare genetic condition that affects the b...

CEDNIK syndrome is a rare neurocutaneous condition. It is characterized by severe developmental abnormalities of the nervous system and abnormal diffe...

CELSR1-related late-onset primary lymphedema is a rare genetic condition that leads to swelling in one or both lower limbs. The swelling, known as lym...

CEP164-related ciliopathy is a rare condition caused by changes in the CEP164 gene. It is a type of ciliopathy, which means it involves problems with...

CEP290-related ciliopathy is a condition that affects the tiny structures in cells called cilia. Cilia are important for many body systems, and when t...

CERKL-related retinopathy is an inherited eye condition that impacts the retina, the light-sensitive layer at the back of the eye. It is caused by cha...

CFAP418-related ciliopathy is a condition caused by changes in the CFAP418 gene. This condition is linked with disorders such as Bardet-Biedl syndrome...

CFAP46-related primary ciliary dyskinesia is a rare form of primary ciliary dyskinesia that is caused by a mutation in the CFAP46 gene. This means tha...

CFTR-related metabolic syndrome (CRMS) is a rare genetic condition that affects infants and is detected through routine newborn screening tests. This...

CHAND syndrome, also known as CHANDS or curly hair-ankyloblepharon-nail dysplasia syndrome, is a rare condition. The condition is identified by its un...

CHARGE syndrome is a rare condition that affects many parts of the body. It is known as a multiple congenital anomaly syndrome, meaning that people wi...

CHD7-related CHARGE syndrome is a rare genetic condition caused by a change in the CHD7 gene. This condition is also known as CHARGE syndrome due to C...

CHEK2-related cancer predisposition is a hereditary condition caused by changes in the CHEK2 gene. This change in the gene increases the likelihood th...

CHILD syndrome, also known as Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects (CS), is a rare genetic condition. It is inherited in...