Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	N-acetylglutamate synthase
Synonyms	ARGA NAT7 AGAS
ID	http://www.orpha.net/ORDO/Orphanet_123675
alternative_term	ARGA NAT7 AGAS
hasDbXref	SwissProt:Q8N159 OMIM:608300 ClinVar:NAGS Reactome:Q8N159 Ensembl:ENSG00000161653 Genatlas:NAGS HGNC:17996
label	N-acetylglutamate synthase
prefixIRI	ORDO:Orphanet_123675
prefLabel	N-acetylglutamate synthase
symbol	NAGS
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://www.limics.org/hrdo/rdfns#gen_id_16515	HRDO	LOOM
	http://purl.bioontology.org/ontology/OMIM/608300	OMIM	LOOM