benign recurrent intrahepatic cholestasis 1

Term ID

DOID:0070231

Synonyms

• BRIC type 1
• BRIC1
• Summerskill syndrome

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. https://www.ncbi.nlm.nih.gov/pubmed/9500542

References

• GARD:10028
• OMIM:243300
• ORDO:99960

Ontology

Human Disease   ( DOID:0070231 )