FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term benign recurrent intrahepatic cholestasis 1 ID (Ontology) DOID:0070231 (Human Disease)
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.
Also Known As "BRIC type 1" ; "BRIC1" ; "Summerskill syndrome"
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 Genes
 benign recurrent intrahepatic cholestasis 1       1
 for disease ribbon | benign recurrent intrahepatic cholestasis 1       1
 model of | benign recurrent intrahepatic cholestasis 1       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease________________
intrahepatic cholestasis                       |
 |__benign recurrent intrahepatic cholestasis__|
                                               benign recurrent intrahepatic cholestasis 1  1 rec.
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Is a autosomal recessive disease
benign recurrent intrahepatic cholestasis
Part of
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Synonyms
  • "BRIC type 1" EXACT
    "BRIC1" EXACT OMO:0003012
    "Summerskill syndrome" EXACT
Secondary IDs
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GARD:10028
MIM:243300
ORDO:99960