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ENCholestasis, Progressive Familial Intrahepatic, 3 (PFIC3)
Alias:
Pfic3
Cholestasis, Progressive Familial Intrahepatic 3
Progressive Familial Intrahepatic Cholestasis Type 3
Mdr3 Deficiency
Progressive Familial Intrahepatic Cholestasis 3
Cholestasis, Progressive Familial Intrahepatic, with Elevated Serum Gamma-Glutamyltransferase
Progressive Familial Intrahepatic Cholestasis with Elevated Serum Gamma-Glutamyltransferase
Progressive Familial Intrahepatic Cholestasis with Elevated Serum Gama-Glutamyltransferase
Cholestasis, Intrahepatic, Familial, Progressive, Type 3
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Cholestasis, Progressive Familial Intrahepatic, 3, also known as pfic3, is related to familial intrahepatic cholestasis and cholangitis, and has symptoms including diarrhea, icterus and pruritus. An important gene associated with Cholestasis, Progressive Familial Intrahepatic, 3 is ABCB4 (ATP Binding Cassette Subfamily B Member 4), and among its related pathways/superpathways are Metabolism and Transport of inorganic cations/anions and amino acids/oligopeptides. Affiliated tissues include liver and spleen, and related phenotypes are splenomegaly and hepatomegaly
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MALACARDS
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