Read Codes, Clinical Terms Version 3 (CTV3)

Last uploaded: January 31, 2024

Preferred Name	N-Acetylglutamate synthase deficiency
Synonyms	NAGS - N-Acetylglutamate synthase deficiency
ID	http://purl.bioontology.org/ontology/RCD/X40SM
altLabel	NAGS - N-Acetylglutamate synthase deficiency
cui	C0268543
notation	X40SM
prefLabel	N-Acetylglutamate synthase deficiency
RID	Y41jU Y41jT
tui	T047
subClassOf	http://purl.bioontology.org/ontology/RCD/C306.

Delete	Subject	Author	Type	Created
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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/MESH/C536109	MESH	CUI
http://purl.bioontology.org/ontology/OMIM/608300	OMIM	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://purl.obolibrary.org/obo/DOID_0112258	DOID	LOOM
http://identifiers.org/omim/237310	REXO	LOOM
http://identifiers.org/omim/237310	GEXO	LOOM
http://identifiers.org/omim/237310	RETO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129307	NCIT	LOOM
http://purl.obolibrary.org/obo/OMIM_237310	CCO	LOOM
http://purl.bioontology.org/ontology/OMIM/237310	OMIM	LOOM
http://purl.obolibrary.org/obo/DOID_0112258	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0112258	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0112258	FNS-H	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10071092	MEDDRA	LOOM
http://purl.obolibrary.org/obo/NCIT_C129307	BERO	LOOM