Additional Disease Briefs


cholestasis, progressive familial intrahepatic, 4

Also known as: PFIC4, TJP2 deficit, TJP2 progressive familial intrahepatic cholestasis, cholestasis, progressive familial intrahepatic 4, cholestasis, progressive familial intrahepatic, 4, cholestasis, progressive familial intrahepatic, type 4, progressive familial intrahepatic cholestasis 4, progressive familial intrahepatic cholestasis caused by mutation in TJP2, progressive familial intrahepatic cholestasis type 4


cholestasis, progressive familial intrahepatic, 5

Also known as: NR1H4 deficiency, NR1H4 progressive familial intrahepatic cholestasis, PFIC5, cholestasis, progressive familial intrahepatic, 5, cholestasis, progressive familial intrahepatic, 5; PFIC5, cholestasis, progressive familial intrahepatic, type 5, progressive familial intrahepatic cholestasis caused by mutation in NR1H4






cholesterol-ester transfer protein deficiency

Also known as: CEPT deficiency, CETP deficiency, HALP1, Hdlcq10, cholesterol ester transfer Protein deficiency, familial hyperalphalipoproteinemia, high density lipoprotein cholesterol level QTL 10, high density lipoprotein cholesterol level quantitative trait locus 10, hyperalphalipoproteinemia, hyperalphalipoproteinemia 1, hyperalphalipoproteinemia type 1


chondroblastoma

Also known as: CHBL, chondroblastoma, chondroblastoma (disease), chondroblastoma of bone