Search Ontology:
Human Disease
benign recurrent intrahepatic cholestasis 1
- Term ID
- DOID:0070231
- Synonyms
-
- BRIC type 1
- BRIC1
- Summerskill syndrome
- 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
- References
-
- GARD:10028
- MIM:243300
- ORDO:99960
- Ontology
- Human Disease ( DOID:0070231 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models