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 |