Regulation of Transcription Ontology

Last uploaded: December 4, 2018
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Preferred Name

Alagille syndrome 1
Synonyms

ALGS1
Definitions

(ALGS1) - A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems.
ID

http://identifiers.org/omim/118450
altLabel

ALGS1
definition

(ALGS1) - A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems.
id

OMIM:118450
notation

OMIM:118450
prefLabel

Alagille syndrome 1
subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031
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