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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
progressive familial intrahepatic cholestasis
Summary
- Synonym
-
- PFIC; Byler disease
- 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.
- Super Class
- intrahepatic cholestasis
External Links
- Disease Ontology
- DOID:0070221
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P19440 | Glutathione hydrolase 1 proenzyme | |
| Q7LGC8 | Carbohydrate sulfotransferase 3 |
