Medical Subject Headings

Last uploaded: January 31, 2024

Preferred Name	N-acetyl glutamate synthetase deficiency
Synonyms	Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency
ID	http://purl.bioontology.org/ontology/MESH/C536109
altLabel	Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency N-Acetylglutamate Synthase Deficiency N-Acetylglutamate Synthetase Deficiency NAGS Deficiency
cui	C0268543
HM	D051046 D056806
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D051046 http://purl.bioontology.org/ontology/MESH/D056806
MDA	20100825
MeSH Frequency	16
MMR	20131024
notation	C536109
prefLabel	N-acetyl glutamate synthetase deficiency
SC	3
TERMUI	T801241 T738271 T801239 T738270 T825394
TH	OMIM (2013) GHR (2014) ORD (2010)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10071092	MDRGER	CUI
http://purl.bioontology.org/ontology/SCTSPA/57119000	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/608300	OMIM	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/OMIM/237310	OMIM	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://nanbyodata.jp/ontology/NANDO_2200477	NANDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536109	RH-MESH	LOOM