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Cholestasis, progressive familial intrahepatic, 6
Progressive familial intrahepatic cholestasis-6 (PFIC6) is an autosomal recessive disorder characterized by elevated liver transaminases, cholestasis, and congenital diarrhea (Gao et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600). [from OMIM]
Bleeding requiring red cell transfusion
Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4). [from HPO]
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