OBO ID: DOID:0070231
Term Name: benign recurrent intrahepatic cholestasis 1 Search Ontology:
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:
Ontology: Human Disease   (DOID:0070231)
OTHER benign recurrent intrahepatic cholestasis 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATP8B1 Cholestasis, benign recurrent intrahepatic 243300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None