| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
BRIC type 1 [EXACT] BRIC1 [EXACT] Summerskill syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |