OBO ID: DOID:0070223
Term Name: progressive familial intrahepatic cholestasis 3 Search Ontology:
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:
Ontology: Human Disease   (DOID:0070223)
OTHER progressive familial intrahepatic cholestasis 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ABCB1 Cholestasis, progressive familial intrahepatic 3 602347
ABCB4 Cholestasis, progressive familial intrahepatic 3 602347
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None