Regulation of Transcription Ontology

Last uploaded: December 4, 2018

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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Mapping To	Ontology	Source
http://identifiers.org/omim/118450	REXO	SAME_URI
http://identifiers.org/omim/118450	GEXO	SAME_URI
http://purl.obolibrary.org/obo/OMIM_118450	CCO	LOOM
http://identifiers.org/omim/118450	REXO	LOOM
http://identifiers.org/omim/118450	GEXO	LOOM
http://id.nlm.nih.gov/mesh/D016738	MDM	LOOM
http://purl.bioontology.org/ontology/OMIM/118450	OMIM	LOOM