Phenotypes for disease #05432 (PFIC (cholestasis, intrahepatic, familial, progressive (PFIC)))

5 entries on 1 page. Showing entries 1 - 5.
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AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000233151 progressive familial intrahepatic cholestasis - liver cirrhosis Familial, autosomal recessive 10y - - - - Johan den Dunnen 00307437
0000233152 progressive familial intrahepatic cholestasis - characteristic phenotype (cholestatic liver disease) Familial, autosomal recessive 20y - - - - Johan den Dunnen 00307438
0000233153 progressive familial intrahepatic cholestasis - characteristic phenotype (cholestatic liver disease, low gamma-glutamyltransferase) Familial, autosomal recessive 2y - - - - Johan den Dunnen 00307439
0000233154 progressive familial intrahepatic cholestasis - characteristic phenotype (cholestatic liver cirrhosis, low gamma-glutamyltransferase) Familial, autosomal recessive 4y - - - - Johan den Dunnen 00307440
0000233155 progressive familial intrahepatic cholestasis - characteristic phenotype (cholestatic liver cirrhosis, low gamma-glutamyltransferase) Familial, autosomal recessive 6m - - - - Johan den Dunnen 00307441
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