Term Name: | progressive familial intrahepatic cholestasis 4 |
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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 ) |