benign recurrent intrahepatic cholestasis 1

Summary

DOID:0070231 - benign recurrent intrahepatic cholestasis 1

Disease Ontology Definition:A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q.

Synonyms: BRIC1, BRIC type 1, Summerskill syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: atp8b1

MIM:

MIM:243300 - CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1

MIM:243300 - CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), benign recurrent intrahepatic cholestasis (is_a)