benign recurrent intrahepatic cholestasis 2

Summary
Synonym
  • BRIC type 2
  • BRIC2
Definition
A benign recurrent 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 benign recurrent intrahepatic cholestasis
Disease Ontology
DOID:0070232
Mondo Disease Ontology
MeSH
ORDO
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8647 ABCB11 ATP binding cassette subfamily B member 11
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O95342 Bile salt export pump

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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: April 7, 2025