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N-Acetylglutamate synthase deficiency

N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia
MedicalCondition rare_disease Q6951345
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Summary

N-Acetylglutamate synthase deficiency is a rare disease[1]. It draws 1 Wikipedia views per month (rare_disease category, ranking #237 of 627).[2]

Key Facts

  • N-Acetylglutamate synthase deficiency's instance of is recorded as rare disease[3].
  • N-Acetylglutamate synthase deficiency's instance of is recorded as class of disease[4].
  • N-Acetylglutamate synthase deficiency's subclass of is recorded as urea cycle disorder[5].
  • N-Acetylglutamate synthase deficiency's MeSH descriptor ID is recorded as C536109[6].
  • N-Acetylglutamate synthase deficiency's OMIM ID is recorded as 237310[7].
  • N-Acetylglutamate synthase deficiency's DiseasesDB is recorded as 29823[8].
  • N-Acetylglutamate synthase deficiency's KEGG ID is recorded as H01032[9].
  • N-Acetylglutamate synthase deficiency's symptoms and signs is recorded as hyperammonemia[10].
  • N-Acetylglutamate synthase deficiency's Orphanet ID is recorded as 927[11].
  • N-Acetylglutamate synthase deficiency's NCI Thesaurus ID is recorded as C129307[12].
  • N-Acetylglutamate synthase deficiency's health specialty is recorded as medical genetics[13].
  • N-Acetylglutamate synthase deficiency's genetic association is recorded as NAGS[14].
  • N-Acetylglutamate synthase deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_927[15].
  • N-Acetylglutamate synthase deficiency's UMLS CUI is recorded as C0268543[16].
  • N-Acetylglutamate synthase deficiency's ICD-10-CM is recorded as E72.2[17].
  • N-Acetylglutamate synthase deficiency's GARD rare disease ID is recorded as 7158[18].
  • N-Acetylglutamate synthase deficiency's Mondo ID is recorded as MONDO_0009377[19].
  • N-Acetylglutamate synthase deficiency's Microsoft Academic ID is recorded as 2780519758[20].
  • N-Acetylglutamate synthase deficiency's Genetics Home Reference Conditions ID is recorded as n-acetylglutamate-synthase-deficiency[21].
  • N-Acetylglutamate synthase deficiency's WikiProjectMed ID is recorded as N-Acetylglutamate synthase deficiency[22].
  • N-Acetylglutamate synthase deficiency's UniProt disease ID is recorded as DI-02025[23].

Why It Matters

N-Acetylglutamate synthase deficiency draws 1 Wikipedia views per month (rare_disease category, ranking #237 of 627).[2]

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [4] ↑ . wikidata.org.
  3. [5] ↑ . wikidata.org.
  4. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] ↑ . wikidata.org.
  7. [9] ↑ . wikidata.org.
  8. [10] ↑ . wikidata.org.
  9. [11] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [12] ↑ . wikidata.org.
  11. [13] ↑ . wikidata.org.
  12. [14] ↑ . UniProt. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  13. [15] ↑ . wikidata.org.
  14. [16] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  15. [17] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  16. [18] ↑ . wikidata.org.
  17. [19] ↑ . wikidata.org.
  18. [20] ↑ . wikidata.org.
  19. [21] ↑ . wikidata.org.
  20. [22] ↑ . wikidata.org.
  21. [23] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikimedia Foundation. dumps.wikimedia.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). N-Acetylglutamate synthase deficiency. Retrieved October 13, 2026, from https://4ort.xyz/entity/n-acetylglutamate-synthase-deficiency
MLA “N-Acetylglutamate synthase deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 13 Oct. 2026, https://4ort.xyz/entity/n-acetylglutamate-synthase-deficiency.
BibTeX @misc{4ortxyz_n-acetylglutamate-synthase-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{N-Acetylglutamate synthase deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/n-acetylglutamate-synthase-deficiency}, note = {Accessed: 2026-10-13}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): N-Acetylglutamate synthase deficiency — https://4ort.xyz/entity/n-acetylglutamate-synthase-deficiency (retrieved 2026-10-13)

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