Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	N-ACETYLGLUTAMATE SYNTHASE
Synonyms	NAGS N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
ID	http://purl.bioontology.org/ontology/OMIM/608300
altLabel	NAGS N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
cui	C1540311 C0268543
Gene Locus	17q21.31
Gene Symbol	NAGS
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/608300.0003 http://purl.bioontology.org/ontology/OMIM/608300.0001 http://purl.bioontology.org/ontology/OMIM/608300.0004 http://purl.bioontology.org/ontology/OMIM/608300.0005 http://purl.bioontology.org/ontology/OMIM/608300.0008 http://purl.bioontology.org/ontology/OMIM/608300.0006 http://purl.bioontology.org/ontology/OMIM/608300.0002 http://purl.bioontology.org/ontology/OMIM/608300.0007
MIMTYPEMEANING	Gene with known sequence
notation	608300
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	N-ACETYLGLUTAMATE SYNTHASE
tui	T047 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/LNC/LP71446-6	LOINC	CUI
http://purl.bioontology.org/ontology/SCTSPA/57119000	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRGER/10071092	MDRGER	CUI
http://purl.bioontology.org/ontology/MESH/C536109	MESH	CUI
http://purl.bioontology.org/ontology/RCD/X40SM	RCD	CUI
http://purl.bioontology.org/ontology/SNMI/D6-A5230	SNMI	CUI
http://purl.bioontology.org/ontology/MDRFRE/10071092	MDRFRE	CUI
http://purl.bioontology.org/ontology/CSP/1849-9321	CRISP	CUI
http://purl.bioontology.org/ontology/MEDDRA/10071092	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/57119000	SNOMEDCT	CUI
http://www.limics.org/hrdo/rdfns#gen_id_16515	HRDO	LOOM
http://www.orpha.net/ORDO/Orphanet_123675	ORDO	LOOM