Disease Directory

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 is a severe disorder that primarily affects the heart and brain of...

Cardiofaciocutaneous (CFC) syndrome is a rare genetic disorder classified as a RASopathy. It is characterized by distinct craniofacial features, conge...

Cardiofaciocutaneous syndrome 1 is a developmental disorder characterized by distinctive facial features, heart and skin anomalies, and significant ne...

Cardiofaciocutaneous syndrome 2 (CFC2) is a rare genetic disorder caused by mutations in the KRAS gene, which plays a crucial role in cell signaling p...

Cardiofaciocutaneous syndrome 3 (CFC3) is a multisystem condition that affects the heart, facial appearance, skin, and skeleton. It results from chang...

Cardiofaciocutaneous syndrome 4 (CFC4) is a multisystem developmental condition that affects the heart, brain, facial features, skin, and hair. It res...

Cardiogenic shock is a rare cardiac condition characterized by severely decreased cardiac output, leading to hypoperfusion and end-organ dysfunction d...

cardiomyopathy due to anthracyclines is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

cardiomyopathy hypogonadism metabolic anomalies is an extremely rare condition. Because few cases have been documented, detailed clinical information...

Cardiomyopathy, dilated, 100 is a cardiac condition characterized primarily by an abnormally enlarged and weakened heart muscle. It is associated with...

cardiomyopathy, dilated, 1LL is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

cardiomyopathy, dilated, 1MM is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Dilated cardiomyopathy, 1QQ, is characterized primarily by dilated cardiomyopathy, which is always present in affected individuals. This condition is...

Cardiomyopathy, dilated, 2D is a severe heart muscle disorder that presents in the neonatal period with marked dilation of the heart and compromised f...

Cardiomyopathy, dilated, 2E is a severe heart muscle disorder that presents in the neonatal period or early childhood, leading to a dilated left ventr...

Cardiomyopathy, dilated, 2F is a heart condition marked by enlarged and weakened heart muscle, leading to severe heart failure and refractory ventricu...

Cardiomyopathy, dilated, 2G is a severe heart muscle disorder that primarily affects the heart’s ability to pump effectively from the neonatal period...

Cardiomyopathy, dilated, 2H is an inherited heart condition that primarily affects the structure and function of the cardiac muscle. It is associated...

Dilated cardiomyopathy, type 2I, is associated with variants in the CAP2 gene and follows an autosomal recessive inheritance pattern. Individuals with...

Cardiomyopathy, dilated, 2K is an inherited heart disorder that primarily affects the structure and function of the heart muscle. Variants in the MYZA...