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Human Disease Ontology
Last uploaded:
November 27, 2024
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| 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 |
MIM:PS211600 SNOMEDCT_US_2023_03_01:74162007 UMLS_CUI:C0268312 NCI:C84453 ORDO:172
|
|
| 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.
|
|
| 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
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|
| subClassOf |
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