DISEASES

Disease-gene associations mined from literature

Human genes for benign recurrent intrahepatic cholestasis 1

Benign recurrent intrahepatic cholestasis 1 [DOID:0070231]

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:  benign recurrent intrahepatic cholestasis 1,  DOID:0070231,  BRIC type 1,  BRIC1,  Summerskill syndrome ...