Details of Disease

General Information of Disease (ID: DISY0XDY)

Disease Name Cholestasis, progressive familial intrahepatic, 6
Synonyms cholestasis, progressive familial intrahepatic, 6; PFIC6
Disease Hierarchy
DIS3J8HT: Progressive familial intrahepatic cholestasis
DISY0XDY: Cholestasis, progressive familial intrahepatic, 6
Disease Identifiers
MONDO ID
MONDO_0030360
UMLS CUI
C5561965
OMIM ID
619484
MedGen ID
1794175

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC51A DTMEQ32 Limited Unknown [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC51A OTDJRZ0P Limited Unknown [1]
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References

1 Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea. Hepatology. 2020 May;71(5):1879-1882. doi: 10.1002/hep.31087.