| Metadata | |
|---|---|
| ID | DOID:0070226 |
| Name | progressive familial intrahepatic cholestasis 1 |
| Definition | A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. https://www.ncbi.nlm.nih.gov/pubmed/9500542 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
FIC1 deficiency [EXACT] PFIC1 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |