Bilirubin-induced neurological dysfunction (BIND) is brain damage that happens when a baby has very high levels of a yellow substance in the blood called ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Chondrodysplasia punctata, Conradi-Hünermann type, is a rare genetic disease that mainly affects bones, skin, and eyes. It belongs to a group of bone growth ...
Cholesteryl ester storage disease (CESD) is a rare inherited disease where the body cannot break down certain fats properly, especially cholesteryl esters and ...
Progressive familial intrahepatic cholestasis type 4 (PFIC4) is a rare inherited liver disease where bile cannot flow out of the liver properly because of a ...
Progressive familial intrahepatic cholestasis type 4 (PFIC4) is a rare inherited liver disease where bile cannot flow out of the liver properly because of a ...
Progressive familial intrahepatic cholestasis type 4 (PFIC4) is a rare inherited liver disease where the liver cells cannot move bile out of the liver in a ...
Cholestasis-pigmentary retinopathy-cleft palate syndrome is a very rare condition that is present from birth and affects many parts of the body at the same ...
Norwegian cholestasis is an old name for a very rare genetic disease now usually called Aagenaes syndrome or cholestasis-lymphedema (lymphedema) syndrome. It ...
Cholestatic jaundice with hereditary lymphedema is a very rare inherited disease in which two main problems happen together: long-lasting or repeated blockage ...
Cholestasis-edema syndrome, Norwegian type, is a very rare inherited liver and lymph vessel disease. It causes long-lasting or repeated blocking of bile flow ...
Recurrent jaundice of pregnancy is usually the same condition doctors now call intrahepatic cholestasis of pregnancy (ICP). Over time it has also been called ...
Recurrent intrahepatic cholestasis of pregnancy (recurrent ICP) is a liver problem that comes back in more than one pregnancy in the same woman. In this ...
Gravidic intrahepatic cholestasis (also called intrahepatic cholestasis of pregnancy, ICP) is a liver problem that happens only in pregnancy. In this ...
Intrahepatic cholestasis of pregnancy (ICP) is a liver problem that happens only during pregnancy, usually in the late second or third trimester. In this ...
Van Bogaert–Scherer–Epstein syndrome is the old name for a rare, inherited metabolic disease that doctors now usually call cerebrotendinous xanthomatosis ...
Sterol 27-hydroxylase deficiency is a rare genetic disease where a gene called CYP27A1 does not work properly. This gene makes an enzyme that helps turn ...
“Cholestanolosis” is an older or less common name that usually refers to cerebrotendinous xanthomatosis (CTX), a rare genetic disease where a fat-like ...
Cholestanol storage disease is a rare, inherited metabolic disease in which the body cannot correctly turn cholesterol into normal bile acids in the liver. ...
Cerebrotendinous cholesterinosis, usually called cerebrotendinous xanthomatosis (CTX), is a very rare genetic disease that affects how the body makes bile ...
Cerebrotendinous xanthomatosis (often shortened to CTX) is a rare inherited disease that affects how the body turns cholesterol into bile acids. Because of a ...
