| Metadata | |
|---|---|
| ID | DOID:0070222 |
| Name | progressive familial intrahepatic cholestasis 2 |
| Definition | A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. https://www.ncbi.nlm.nih.gov/pubmed/9806540 |
| Xrefs |
SNOMEDCT_US_2023_03_01:1155841005 |
| Subsets |
DO_rare_slim |
| Synonyms |
BSEP deficiency [EXACT] PFIC2 [EXACT] |
| Parent Relationships |