Progressive Familial Intrahepatic Cholestasis 4
Disease ID: disease_node_17768
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| Dbxref | MIM:615878, ORDO:480483 |
|---|---|
| Subclassof | DOID_0070221, DOID_0050737 |
| Data Source | DOID |
| Synonyms | PFIC4, TJP2 deficit |
| Doid Label | progressive familial intrahepatic cholestasis 4 |
| Doid Description | A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17768 |
| Doid Id | DOID_0070224 |
| Label | Progressive Familial Intrahepatic Cholestasis 4 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Progressive Familial Intrahepatic Cholestasis(ID:disease_node_17766) (Disease)