benign recurrent intrahepatic cholestasis 2

Term ID

DOID:0070232

Synonyms

• 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. https://www.ncbi.nlm.nih.gov/pubmed/15300568

References

• GARD:10029
• MESH:C535934
• OMIM:605479
• ORDO:99961

Ontology

Human Disease   ( DOID:0070232 )