| Metadata | |
|---|---|
| ID | DOID:0070223 |
| Name | progressive familial intrahepatic cholestasis 3 |
| 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:1186865008 |
| Subsets |
DO_rare_slim |
| Synonyms |
MDR3 deficiency [EXACT] PFIC3 [EXACT] progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase [EXACT] |
| Parent Relationships |