Disease Directory

Cholangiolocellular carcinoma is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited. It is...

Cholera is an infectious disease caused by the bacterium Vibrio cholerae. It is characterized by severe watery diarrhea, which can lead to dehydration...

Cholestasis, intrahepatic, of pregnancy, type 1 (ICP1) is associated with variants in the ATP8B1 gene, which is inherited in an autosomal dominant man...

Cholestasis, intrahepatic, of pregnancy, type 3 (ICP3) is associated with genetic variants in the ABCB4 gene, which is known to play a role in bile tr...

Cholestasis, progressive familial intrahepatic, 10 is a condition affecting the liver that leads to impaired bile flow and progressive liver dysfuncti...

Cholestasis, progressive familial intrahepatic, 11 (PFIC11) is associated with genetic variants in the SEMA7A gene and follows an autosomal recessive...

Cholestasis, progressive familial intrahepatic, 12 is a disorder primarily affecting liver function with disturbances in bile flow. The condition is g...

Cholestasis, progressive familial intrahepatic, 13 is associated with variants in the PSKH1 gene. However, the inheritance pattern for this condition...

Cholestasis, progressive familial intrahepatic, 4 is an inherited liver condition characterized by severe cholestasis and liver damage. It is caused b...

Cholestasis, progressive familial intrahepatic, 5 is a severe liver condition characterized by impaired bile flow that leads to progressive liver dama...

Cholestasis, progressive familial intrahepatic, 6 is a liver disorder characterized by impaired bile flow leading to conjugated hyperbilirubinemia and...

Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss is a liver disorder that presents with impaired bile flow leading to c...

Cholestasis, progressive familial intrahepatic, 8 is a liver disorder characterized by impaired bile flow and associated biochemical abnormalities. Th...

Cholestasis, progressive familial intrahepatic, 9 is an inherited liver condition characterized by problems in bile duct structure and function. The c...

Cholestasis-pigmentary retinopathy-cleft palate syndrome, also known as Hardikar syndrome, is a congenital disorder that affects multiple organ system...

Cholesterol biosynthetic process disease is an extremely rare condition. Because few cases have been documented, detailed clinical information is limi...

Cholesterol catabolic process disease is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited...

Cholesterol metabolism disease is a disorder characterized by a disruption in the normal processes that manage cholesterol in the body. This condition...

Cholesterol-ester transfer protein deficiency, also known as CETP deficiency, is caused by variants in the CETP gene, which is inherited in an autosom...

Cholesteryl ester storage disease is a metabolic condition classified as a form of lysosomal acid lipase deficiency, in which cholesterol esters and t...