Gene Expression Ontology

Last uploaded: December 16, 2015

Preferred Name	Alagille syndrome 2
Synonyms	ALGS2
Definitions	(ALGS2) - 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/610205
altLabel	ALGS2
definition	(ALGS2) - 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:610205
notation	OMIM:610205
prefLabel	Alagille syndrome 2
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://identifiers.org/omim/610205	REXO	SAME_URI
http://identifiers.org/omim/610205	RETO	SAME_URI
http://purl.bioontology.org/ontology/OMIM/610205	OMIM	LOOM
http://identifiers.org/omim/610205	REXO	LOOM
http://identifiers.org/omim/610205	RETO	LOOM
http://purl.obolibrary.org/obo/OMIM_610205	CCO	LOOM