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Alagille syndrome

Disease Summary
Associated Targets (4)
Tbio

2

Tclin

1

Tchem

1


GARD Rare
Mondo Description Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.
Disease Ontology Description A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.
Mondo Term and Equivalent IDs
MONDO:0007318:  Alagille syndrome
GARD:0000804: 
MESH:D016738: 
NCIT:C35139: 
OMIMPS:118450: 
Orphanet:52: 
SCTID:31742004: 
UMLS:C0085280: