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Standards Ontologies Notations
progressive familial intrahepatic cholestasis 2

Summary
Synonym
  • BSEP deficiency
  • PFIC2
Definition
A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31.
Super Class
autosomal recessive disease progressive familial intrahepatic cholestasis
Disease Ontology
DOID:0070222
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8647 ABCB11 ATP binding cassette subfamily B member 11
Displaying 1 entry
Gene ID Gene Symbol Description Source
27413 Abcb11 ATP-binding cassette, sub-family B member 11
Displaying 1 entry
Gene ID Gene Symbol Description Source
83569 Abcb11 ATP binding cassette subfamily B member 11
Displaying all 2 entries
Gene ID Gene Symbol Description Source
178215 pgp-1 Multidrug resistance protein pgp-1
181326 pgp-3 Multidrug resistance protein pgp-3
Displaying 1 entry
Gene ID Gene Symbol Description Source
853671 STE6 ATP-binding cassette a-factor transporter STE6
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024