Visualize Submit Comment
Metadata
ID DOID:0070231
Name benign recurrent intrahepatic cholestasis 1
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
Xrefs

GARD:10028

OMIM:243300

ORDO:99960

UMLS_CUI:C1855731

Synonyms

BRIC type 1 [EXACT]

BRIC1 [EXACT]

Summerskill syndrome [EXACT]

Parent Relationships

is_a benign recurrent intrahepatic cholestasis

Add an item to the term tracker