Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/243300
http://purl.bioontology.org/ontology/OMIM/243300
|
|---|---|
| Preferred Name | CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1 |
| Synonyms |
SUMMERSKILL SYNDROME
BRIC1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
SUMMERSKILL SYNDROME
BRIC1
|
|---|---|
| prefLabel | CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1
|
| Gene Symbol |
PFIC1
ATP8B1
ICP1
BRIC
FIC1
|
| Scope Statement | Disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis [MISCELLANEOUS]
Allelic disorder to progressive familial intrahepatic cholestasis-1 (PFIC1, 211600) [MISCELLANEOUS]
Caused by mutation in the ATPase, class I, type 8B, member 1 gene (ATP8B1, 602397.0006) [MOLECULAR BASIS]
Variable frequency and severity [MISCELLANEOUS]
Allelic disorder to intrahepatic cholestasis of pregnancy (ICP, 147480) [MISCELLANEOUS]
Variable age at onset, range from infancy to adulthood [MISCELLANEOUS]
See more
See less
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 18q21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 243300
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4551899
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |