| Metadata | |
|---|---|
| ID | DOID:0070224 |
| Name | progressive familial intrahepatic cholestasis 4 |
| Definition | A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21. https://www.ncbi.nlm.nih.gov/pubmed/24614073 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
PFIC4 [EXACT] TJP2 deficit [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |