Cell Cycle Ontology

Last uploaded: June 26, 2014
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Preferred Name

Alagille syndrome 1
Synonyms
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://purl.obolibrary.org/obo/OMIM_118450
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.
has_obo_namespace

cell_cycle_ontology
id

OMIM:118450
label

Alagille syndrome 1
notation

OMIM:118450
prefLabel

Alagille syndrome 1
treeView

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

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