| Term Name: | progressive familial intrahepatic cholestasis 4 |
|---|---|
| Synonyms: | PFIC4, TJP2 deficit |
| Definition: | A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21. |
| Ontology: | Human Disease [DOID:0070224] ( DOID:0070224 ) |