| Metadata | |
|---|---|
| ID | DOID:0070225 |
| Name | progressive familial intrahepatic cholestasis 5 |
| Definition | A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q. https://www.ncbi.nlm.nih.gov/pubmed/26888176 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
NR1H4 deficiency [EXACT] PFIC5 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |