progressive familial intrahepatic cholestasis 3

Term ID

DOID:0070223

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. https://www.ncbi.nlm.nih.gov/pubmed/9419367

References

• GARD:1289
• MESH:C535935
• OMIM:602347
• ORDO:79305
• SNOMEDCT_US_2023_03_01:1186865008
• UMLS_CUI:C1865643

Ontology

Human Disease   ( DOID:0070223 )