Alagille syndrome

Summary
Synonym
  • Alagille-Watson syndrome
  • Arteriohepatic dysplasia
Definition
A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.
Super Class
liver disease
Disease Ontology
DOID:9245
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
182 JAG1 jagged canonical Notch ligand 1
4853 NOTCH2 notch receptor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
16449 Jag1 jagged 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9QXX0 Protein jagged-1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025