Preferred Name |
progressive familial intrahepatic cholestasis |
|
Synonyms |
PFIC; Byler disease |
|
Definitions |
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. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0070221 |
|
database_cross_reference |
SNOMEDCT_US_2023_03_01:74162007 OMIM:PS211600 UMLS_CUI:C0268312 NCI:C84453 ORDO:172 |
|
has exact synonym |
PFIC; Byler disease |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:0070221 |
|
in_subset | ||
label |
progressive familial intrahepatic cholestasis |
|
notation |
DOID:0070221 |
|
prefLabel |
progressive familial intrahepatic cholestasis |
|
textual definition |
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. |
|
subClassOf |