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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.\" [url:https\\://www.ncbi.nlm.nih.gov/pubmed/9419367]","descendants":[],"doid":"DOID:0070223","name":"progressive familial intrahepatic cholestasis 3","parents":["DOID:0050737","DOID:0070221"],"synonyms":{"exact":["MDR3 deficiency","PFIC3","progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase"]},"xrefs":{"gard":"1289","mesh":"C535935","mim":"602347","ordo":"79305","snomedct_us_2025_09_01":"1186865008","umls_cui":"C1865643"}},"hpo":{"clinical_course":{"biocuration":{"date":"2010-06-19","name":"HPO:skoehler"},"evidence":"PCS","freq_denominator":2,"freq_numerator":2,"hpo_id":"HP:0003593","hpo_name":"Infantile onset","numeric_freq":1.0,"original_disease_id":"OMIM:602347","pmid_refs":"PMID:9419367"},"disease_name":"Cholestasis, progressive familial intrahepatic, 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