FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term progressive familial intrahepatic cholestasis 3 ID (Ontology) DOID:0070223 (Human Disease)
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.
Also Known As "MDR3 deficiency" ; "PFIC3" ; "progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase"
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 Genes
 progressive familial intrahepatic cholestasis 3       4
 for disease ribbon | progressive familial intrahepatic cholestasis 3       4
 model of | progressive familial intrahepatic cholestasis 3       4
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____________________
intrahepatic cholestasis                           |
 |__progressive familial intrahepatic cholestasis__|
                                                   progressive familial intrahepatic cholestasis 3  4 rec.
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Is a autosomal recessive disease
progressive familial intrahepatic cholestasis
Part of
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Synonyms
  • "MDR3 deficiency" EXACT
    "PFIC3" EXACT OMO:0003012
    "progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase" EXACT
Secondary IDs
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GARD:1289
MESH:C535935
MIM:602347
ORDO:79305
SNOMEDCT_US_2023_03_01:1186865008
UMLS_CUI:C1865643