has material basis in germline mutation in ATP8B1 benign recurrent intrahepatic cholestasis type 1 https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/10028/benign-recurrent-intrahepatic-cholestasis-1 https://www.malacards.org/card/cholestasis_benign_recurrent_intrahepatic_1 DOID:0070231 cholestasis, benign recurrent intrahepatic, type 1 mild ATP8B1 deficiency MEDGEN:1637492 recurrent familial intrahepatic cholestasis 1 Summerskill syndrome ATP8B1 benign recurrent intrahepatic cholestasis benign recurrent intrahepatic cholestasis 1 Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity. Bric type 1 cholestasis, benign recurrent intrahepatic OMIM:243300 cholestasis, benign recurrent intrahepatic 1 MONDO:0009469 UMLS:C4551899 Orphanet:99960 BRIC1 benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1 GARD:0010028 cholestasis, benign recurrent intrahepatic, 1 progressive familial intrahepatic cholestasis benign recurrent intrahepatic cholestasis