carbamoyl phosphate synthetase I deficiency disease

amino acid metabolic disorder that involves accumulation of ammonia in the blood
MedicalCondition rare_disease Q5037834
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carbamoyl phosphate synthetase I deficiency disease

Summary

carbamoyl phosphate synthetase I deficiency disease is a rare disease[1]. It draws 63 Wikipedia views per month (rare_disease category, ranking #208 of 627).[2]

Key Facts

  • carbamoyl phosphate synthetase I deficiency disease's instance of is recorded as rare disease[3].
  • carbamoyl phosphate synthetase I deficiency disease's instance of is recorded as class of disease[4].
  • carbamoyl phosphate synthetase I deficiency disease is a type of urea cycle disorder[5].
  • carbamoyl phosphate synthetase I deficiency disease is a type of amino acid metabolic disorder[6].
  • carbamoyl phosphate synthetase I deficiency disease is a type of autosomal recessive disease[7].
  • carbamoyl phosphate synthetase I deficiency disease's described at URL is recorded as https://www.corememory.com/p/the-new-gene-therapy-playbook-babykj[8].
  • carbamoyl phosphate synthetase I deficiency disease's NCI Thesaurus ID is recorded as C84612[9].
  • carbamoyl phosphate synthetase I deficiency disease's health specialty is recorded as neurology[10].
  • carbamoyl phosphate synthetase I deficiency disease's health specialty is recorded as medical genetics[11].
  • carbamoyl phosphate synthetase I deficiency disease's health specialty is recorded as endocrinology[12].
  • carbamoyl phosphate synthetase I deficiency disease's genetic association is recorded as CPS1[13].
  • carbamoyl phosphate synthetase I deficiency disease's exact match is recorded as http://purl.obolibrary.org/obo/DOID_9280[14].
  • carbamoyl phosphate synthetase I deficiency disease's exact match is recorded as http://identifiers.org/doid/DOID:9280[15].
  • carbamoyl phosphate synthetase I deficiency disease's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_147[16].
  • carbamoyl phosphate synthetase I deficiency disease's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].

Why It Matters

carbamoyl phosphate synthetase I deficiency disease draws 63 Wikipedia views per month (rare_disease category, ranking #208 of 627).[2] It has Wikipedia articles in 5 language editions, a strong signal of global cultural recognition.[18] It is known by 13 alternative names across languages and contexts.[19]

References

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

Direct Wikidata claims

  1. [3] . corememory.com. Retrieved . corememory.com. Provenance: wikidata.org.
  2. [4] . wikidata.org.
  3. [5] . Disease Ontology. Retrieved . wikidata.org.
  4. [6] . Disease Ontology. Retrieved . wikidata.org.
  5. [7] . Disease Ontology. Retrieved . wikidata.org.
  6. [8] . corememory.com. Retrieved . corememory.com. Provenance: wikidata.org.
  7. [9] . Disease Ontology. Retrieved . wikidata.org.
  8. [10] . wikidata.org.
  9. [11] . wikidata.org.
  10. [12] . wikidata.org.
  11. [13] . Q905695. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  12. [14] . Disease Ontology. Retrieved . wikidata.org.
  13. [15] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  14. [16] . wikidata.org.
  15. [17] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.org.
  2. [18] . Wikidata sitelinks. wikidata.org.
  3. [19] . Wikidata aliases. wikidata.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). carbamoyl phosphate synthetase I deficiency disease. Retrieved May 3, 2026, from https://4ort.xyz/entity/carbamoyl-phosphate-synthetase-i-deficiency-disease
MLA “carbamoyl phosphate synthetase I deficiency disease.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/carbamoyl-phosphate-synthetase-i-deficiency-disease.
BibTeX @misc{4ortxyz_carbamoyl-phosphate-synthetase-i-deficiency-disease_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{carbamoyl phosphate synthetase I deficiency disease}}, year = {2026}, url = {https://4ort.xyz/entity/carbamoyl-phosphate-synthetase-i-deficiency-disease}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): carbamoyl phosphate synthetase I deficiency disease — https://4ort.xyz/entity/carbamoyl-phosphate-synthetase-i-deficiency-disease (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/carbamoyl-phosphate-synthetase-i-deficiency-disease · Last refreshed:

Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 6d ago · JhealdBatch bot · 2026-07-04 view diff on Wikidata ↗
    On focus list of wikimedia project WikiProject Medicine
    Health specialty neurology, medical genetics, endocrinology
    Subclass of urea cycle disorder, amino acid metabolic disorder, autosomal recessive disease
    Subclass of
    + 4 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39915|batch #39915]]: rm redundant disease superclass"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.