Additional Disease Briefs

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benign recurrent intrahepatic cholestasis type 1

Also known as: ATP8B1 benign recurrent intrahepatic cholestasis, BRIC1, Bric type 1, Summerskill syndrome, benign recurrent intrahepatic cholestasis 1, benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1, cholestasis, benign recurrent intrahepatic, cholestasis, benign recurrent intrahepatic 1, cholestasis, benign recurrent intrahepatic, 1, cholestasis, benign recurrent intrahepatic, type 1, mild ATP8B1 deficiency, recurrent familial intrahepatic cholestasis 1


benign recurrent intrahepatic cholestasis type 2

Also known as: BRIC2, Bric type 2, benign recurrent intrahepatic cholestasis 2, cholestasis, benign recurrent intrahepatic 2, cholestasis, benign recurrent intrahepatic, 2, cholestasis, benign recurrent intrahepatic, type 2, mild ABCB11 deficiency, recurrent familial intrahepatic cholestasis 2





bent bone dysplasia syndrome 1

Also known as: BBDS, FGFR2-related bent bone dysplasia, bent bone dysplasia (BBD)-FGFR2 type, bent bone dysplasia syndrome, perinatal lethal bent bone dysplasia