All diseases

2 entries on 1 page. Showing entries 1 - 2.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05432 PFIC cholestasis, intrahepatic, familial, progressive (PFIC) - - 6 5 ABCB11, ABCB4, ATP8B1, NR1H4, TJP2 - -
05433 PFIC5 cholestasis, intrahepatic, familial, progressive, type 5 (PFIC-5) 617049 AR - - NR1H4 - autosomal recessive
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