Term Name: | progressive familial intrahepatic cholestasis 3 |
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Synonyms: | MDR3 deficiency, PFIC3, progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase |
Definition: | A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12. |
Ontology: | Human Disease [DOID:0070223] ( DOID:0070223 ) |