ornithine carbamoyltransferase deficiency

urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase
MedicalCondition rare_disease Q3043161
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ornithine carbamoyltransferase deficiency

Summary

ornithine carbamoyltransferase deficiency is a rare disease[1]. It has Wikipedia articles in 8 language editions, a strong signal of global cultural recognition.[2]

Key Facts

  • ornithine carbamoyltransferase deficiency's instance of is recorded as rare disease[3].
  • ornithine carbamoyltransferase deficiency's instance of is recorded as class of disease[4].
  • ornithine carbamoyltransferase deficiency is a type of syndromic neurometabolic disease with X-linked intellectual disability[5].
  • ornithine carbamoyltransferase deficiency is a type of urea cycle disorder[6].
  • ornithine carbamoyltransferase deficiency is a type of disease[7].
  • ornithine carbamoyltransferase deficiency is a type of metabolic syndrome[8].
  • ornithine carbamoyltransferase deficiency's NCI Thesaurus ID is recorded as C84957[9].
  • ornithine carbamoyltransferase deficiency's health specialty is recorded as medical genetics[10].
  • ornithine carbamoyltransferase deficiency's health specialty is recorded as metabolic syndrome[11].
  • ornithine carbamoyltransferase deficiency's health specialty is recorded as pediatrics[12].
  • ornithine carbamoyltransferase deficiency's genetic association is recorded as OTC[13].
  • ornithine carbamoyltransferase deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_9271[14].
  • ornithine carbamoyltransferase deficiency's exact match is recorded as http://identifiers.org/doid/DOID:9271[15].
  • ornithine carbamoyltransferase deficiency's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].

Why It Matters

ornithine carbamoyltransferase deficiency has Wikipedia articles in 8 language editions, a strong signal of global cultural recognition.[2] It is known by 15 alternative names across languages and contexts.[17]

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] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [6] . Disease Ontology. Retrieved . wikidata.org.
  5. [7] . wikidata.org.
  6. [8] . 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.

Class ancestry

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

Aggregate / graph-position facts

  1. [2] . Wikidata sitelinks. wikidata.org.
  2. [17] . 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). ornithine carbamoyltransferase deficiency. Retrieved May 3, 2026, from https://4ort.xyz/entity/ornithine-carbamoyltransferase-deficiency
MLA “ornithine carbamoyltransferase deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/ornithine-carbamoyltransferase-deficiency.
BibTeX @misc{4ortxyz_ornithine-carbamoyltransferase-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{ornithine carbamoyltransferase deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/ornithine-carbamoyltransferase-deficiency}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): ornithine carbamoyltransferase deficiency — https://4ort.xyz/entity/ornithine-carbamoyltransferase-deficiency (retrieved 2026-05-03)

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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. 3d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of syndromic neurometabolic disease with X-linked intellectual disability, urea cycle disorder, disease +1
    Health specialty medical genetics, metabolic syndrome, pediatrics
    Subclass of
    Genetic association OTC
    + 4 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39732|batch #39732]]: rm redundant subclass"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.