Benign Recurrent Intrahepatic Cholestasis 1
Disease ID: disease_node_17763
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| Dbxref | GARD:10028, MIM:243300, ORDO:99960 |
|---|---|
| Subclassof | DOID_0050737, DOID_0070230 |
| Data Source | DOID |
| Synonyms | BRIC type 1, BRIC1, Summerskill syndrome |
| Doid Label | benign recurrent intrahepatic cholestasis 1 |
| Doid Description | A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17763 |
| Doid Id | DOID_0070231 |
| Label | Benign Recurrent Intrahepatic Cholestasis 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Benign Recurrent Intrahepatic Cholestasis(ID:disease_node_17762) (Disease)