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Alagille Syndrome Due To A Jag1 Point Mutation (MONDO:0016862)

Any Alagille syndrome due to a variation in the JAG1 gene that affects many organ systems including the liver, heart, skeleton, eyes and kidneys.

Overview

Category

Ontology ID

Internal:17287

Synonyms

Alagille syndrome due to a JAG1 point mutation

Alagille syndrome type 1

Alagille syndrome-JAG1

Alagille-Watson syndrome due to a JAG1 point mutation

arteriohepatic dysplasia due to a JAG1 point mutation

syndromic bile duct paucity due to a JAG1 point mutation

ALGS1

Alagille syndrome 1

Alagille-Watson syndrome

arteriohepatic dysplasia

cholestasis with peripheral pulmonary stenosis

hepatic ductular hypoplasia, syndromatic

Mapped terms

GARD:0017251

MEDGEN:365434

OMIM:118450

Orphanet:261619

UMLS:C1956125

Child terms

Unknown children.