1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0070224 | progressive familial intrahepatic cholestasis 4 | A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0070221 | progressive familial intrahepatic cholestasis | An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. |